2p16.3
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
253632Range
47600165-53040270Associated Human Genes
FBXO11, NRXN1Associated Mouse Models
-Autism Reports
72Populations
89 (83 case / 6 control)Individuals
509 (432 case / 77 control)Summary
Deletions at the 2p16.3 locus have been observed far more frequently than duplications in autistic cohorts. CNVs at this locus are typically located within or adjacent to the NRXN1 gene.
External Links
Reports related to 2p16.3 (72 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Mapping autism risk loci using genetic linkage and chromosomal rearrangements. | Autism Genome Project Consortium , et al. (2007) |
| 2 | Major | Structural variation of chromosomes in autism spectrum disorder. | Marshall CR , et al. (2008) |
| 3 | Minor | Identifying autism loci and genes by tracing recent shared ancestry. | Morrow EM , et al. (2008) |
| 4 | Major | Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. | Glessner JT , et al. (2009) |
| 5 | Major | Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. | Bucan M , et al. (2009) |
| 6 | Major | Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. | Guilmatre A , et al. (2009) |
| 7 | Major | Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. | Winiowiecka-Kowalnik B , et al. (2010) |
| 8 | Minor | Clinical genetic testing for patients with autism spectrum disorders. | Shen Y , et al. (2010) |
| 9 | Major | Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. | Ching MS , et al. (2010) |
| 10 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 11 | Major | De novo rates and selection of large copy number variation. | Itsara A , et al. (2010) |
| 12 | Minor | A genotype resource for postmortem brain samples from the Autism Tissue Program. | Wintle RF , et al. (2011) |
| 13 | Major | Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. | Bremer A , et al. (2011) |
| 14 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 15 | Minor | Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. | Nord AS , et al. (2011) |
| 16 | Minor | A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. | Soysal Y , et al. (2011) |
| 17 | Minor | Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ , et al. (2011) |
| 18 | Major | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 19 | Minor | Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. | Ben-David E , et al. (2011) |
| 20 | Major | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... | Kaminsky EB , et al. (2011) |
| 21 | Major | Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. | Duong L , et al. (2012) |
| 22 | Major | Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. | Schaaf CP , et al. (2012) |
| 23 | Minor | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. | Tzetis M , et al. (2012) |
| 24 | Minor | Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. | Ye T , et al. (2012) |
| 25 | Minor | Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? | Van Den Bossche MJ , et al. (2012) |
| 26 | Minor | 2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragma... | Bermudez-Wagner K , et al. (2012) |
| 27 | Major | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 28 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 29 | Minor | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC , et al. (2013) |
| 30 | Major | Identification of rare copy number variants in high burden schizophrenia families. | Van Den Bossche MJ , et al. (2013) |
| 31 | Major | Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. | Bna F , et al. (2013) |
| 32 | Minor | High rate of disease-related copy number variations in childhood onset schizophrenia. | Ahn K , et al. (2013) |
| 33 | Major | Identification of candidate intergenic risk loci in autism spectrum disorder. | Walker S and Scherer SW (2013) |
| 34 | Minor | Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA , et al. (2013) |
| 35 | Major | Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. | Roberts JL , et al. (2013) |
| 36 | Major | A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. | Agha Z , et al. (2014) |
| 37 | Major | Etiological yield of SNP microarrays in idiopathic intellectual disability. | Utine GE , et al. (2014) |
| 38 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 39 | Major | Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. | Imitola J , et al. (2014) |
| 40 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 41 | Major | A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1. | Holmquist P (2014) |
| 42 | Minor | Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study (2014) |
| 43 | Major | A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. | Vias-Jornet M , et al. (2015) |
| 44 | Major | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 45 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 46 | Minor | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. | Tammimies K , et al. (2015) |
| 47 | Minor | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J , et al. (2016) |
| 48 | Minor | Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. | Oikonomakis V , et al. (2016) |
| 49 | Minor | The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. | Wenger TL , et al. (2016) |
| 50 | Major | Frequency and Complexity of De Novo Structural Mutation in Autism. | Brandler WM , et al. (2016) |
| 51 | Major | Genome-wide characteristics of de novo mutations in autism | Yuen RK et al. (2016) |
| 52 | Major | Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. | Wolfe K , et al. (2016) |
| 53 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 54 | Minor | Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. | Sansovi I , et al. (2017) |
| 55 | Minor | Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. | Kalsner L , et al. (2017) |
| 56 | Major | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 57 | Major | NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. | Al Shehhi M , et al. (2018) |
| 58 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 59 | Minor | Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder | Fan Y et al. (2018) |
| 60 | Major | Both rare and common genetic variants contribute to autism in the Faroe Islands. | Leblond CS , et al. (2019) |
| 61 | Major | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. | Munnich A , et al. (2019) |
| 62 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 63 | Major | Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. | Husson T , et al. (2020) |
| 64 | Minor | Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases | Alfieri P et al. (2020) |
| 65 | Major | An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder | Cameli C et al. (2021) |
| 66 | Major | Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings | Ohashi K et al. (2021) |
| 67 | Major | De novo missense variants in FBXO11 alter its protein expression and subcellular localization | Gregor A et al. (2021) |
| 68 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 69 | Major | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder | Chan AJS et al. (2022) |
| 70 | Minor | - | Bentez-Burraco A et al. (2023) |
| 71 | Major | - | Miyake N et al. (2023) |
| 72 | Major | - | Zhang Y et al. (2023) |
2p16.3
Description:
Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
Diagnosis:
Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
Ben-David E , et al. (2011)Cohort Size: 17
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1822000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console
Algorithm: Canary, PennCNV
Geographical Ancestry: -
2p16.3
Description:
9-year-old female patient with developmental delay and other features, born to father diagnosed with ADHD and early cognitive difficulties
Diagnosis:
Developmental delay (DD), short stature, and multiple congenital anomalies (MCA)
Bermudez-Wagner K , et al. (2012)Cohort Size: 1
Age Min: 108
Age Max: 108
Average: 108
Male: -
Female: 100
Unknown: -
CNV Size: 190000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: 105K whole-genome microarray (Signature Select v1.1; Signature Genomics/Agilent)
Software: Genoglyphix
Algorithm: -
Geographical Ancestry: Caucasian
2p16.3
Description:
Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study
Diagnosis:
Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).
Bna F , et al. (2013)Cohort Size: 25
Age Min: 60
Age Max: 708
Average: 193.38461538462
Male: 73
Female: 27
Unknown: -
CNV Size: 1150000
Deletion: 26
Duplication: 0
Total CNV: 26
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
FISH, MLPA, qPCR, aCGH, array SNP
Platform: Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
Software: -
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
Diagnosis:
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
Ahn K , et al. (2013)Cohort Size: 126
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 112000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human or HumanOmni Beadchips
Software: Illumina GenomeStudio, CNVision, Nexus copy number
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A
2p16.3
Description:
Affected family members (a mother and two male offspring) from a consanguineous Pakistani family (MRQ12)
Diagnosis:
All three affected family members presented with intellectual disability (ID), epilepsy (EP), and diabetes mellitus; two also presented with microcephaly, white matter disease of the brain, hyponychia, and dysmorphic facial features.
Agha Z , et al. (2014)Cohort Size: 3
Age Min: 468
Age Max: 864
Average: 604
Male: 67
Female: 33
Unknown: -
CNV Size: 610000
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
Array SNP
Validation Method:
qPCR
Platform: Affymetrix 250K
Software: -
Algorithm: -
Geographical Ancestry: Pakistani
2p16.3
Description:
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
Diagnosis:
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Al Shehhi M , et al. (2018)Cohort Size: 34
Age Min: 12
Age Max: 288
Average: 104.9696969697
Male: 62
Female: 38
Unknown: -
CNV Size: -
Deletion: 34
Duplication: 0
Total CNV: 34
Discovery Method:
aCGH
Validation Method:
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Platform: Platform N/A
Software: -
Algorithm: -
Geographical Ancestry: Ireland
2p16.3
Description:
Individuals with heterozygous NRXN1 deletions referred to the Bambino Ges Childrens Hospital for genetic, neuropsychological and neuropsychiatric assessment
Diagnosis:
All five individuals presented with developmental delay; three cases were also diagnosed with autism spectrum disorder (ADOS-2)
Alfieri P et al. (2020)Cohort Size: 5
Age Min: 48
Age Max: 183
Average: 104.4
Male: 60
Female: 40
Unknown: -
CNV Size: 1302552
Deletion: 5
Duplication: 0
Total CNV: 5
Discovery Method:
aCGH, solid phase hybridization
Validation Method:
None
Platform: Agilent Human CGH Microarray 60K, Illumina Infinium CytoSNP-850K BeadChip
Software: Agilent Feature Extraction v.10.7.3.1, Bluefuse Multi v.4.4
Algorithm: ADM-2
Geographical Ancestry: -
2p16.3
Description:
Patient with a paternally-inherited 2p16.3 deletion affecting exons 3-7 of the NRXN1 gene.
Diagnosis:
Case presented with severe developmental delay (DD), moderate intellectual disability (ID), autistic traits (incluiding ritualized behaviors and impaired social interactions), and symptoms of ADHD.
Bentez-Burraco A et al. (2023)Cohort Size: 1
Age Min: 96
Age Max: 96
Average: 96
Male: -
Female: 100
Unknown: -
CNV Size: 185953
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent
Software: Agilent Genomic Workbench v.7.0
Algorithm: ADM-2
Geographical Ancestry: Spain
2p16.3
Description:
Individuals from 912 multiplex families (AGRE cohort)
Diagnosis:
ASD
Bucan M , et al. (2009)Cohort Size: 3832
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 439406
Deletion: 5
Duplication: 0
Total CNV: 5
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: HumanHap550 V3
Software: -
Algorithm: Penn CNV
Geographical Ancestry: -
2p16.3
Description:
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
Diagnosis:
828 diagnosed with autism, 31 with other ASDs
Bucan M , et al. (2009)Cohort Size: 859
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 533842
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: HumanHap550 V3
Software: -
Algorithm: Penn CNV
Geographical Ancestry: European
2p16.3
Description:
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
Diagnosis:
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
Bremer A , et al. (2011)Cohort Size: 223
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 374000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
MLPA, FISH
Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish
2p16.3
Description:
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
Diagnosis:
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
Brandler WM , et al. (2016)Cohort Size: 71
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 166000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
PCR
Platform: Illumina HiSeq
Software: SVtyper
Algorithm: Lumpy
Geographical Ancestry: N/A
2p16.3
Description:
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
Diagnosis:
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 880
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 504787
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
WGS
Validation Method:
PCR, array SNP
Platform: Illumina HiSeq X10 or HiSeq 2500
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
2p16.3
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 489848
Deletion: 6
Duplication: 0
Total CNV: 6
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
2p16.3
Description:
ASD probands from 89 Italian families recruited at the UOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche (Bologna, Italy).
Diagnosis:
Cases were diagnosed with ASD (ADOS, CARS, and M-CHAT); developmental/cognitive levels were assessed with PEP-3, Leiter-R, Griffith Scales, or Wechsler Scales, while adaptive behavior was assessed with VABS.
Cameli C et al. (2021)Cohort Size: 104
Age Min: 60
Age Max: 60
Average: 60
Male: -
Female: 100
Unknown: -
CNV Size: 811408
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2 8x60K, Agilent SurePrint G3 Human CGH 8x60K
Software: Agilent CytoGenomics v.5.0.1.6
Algorithm: ADM1
Geographical Ancestry: Italy
2p16.3
Description:
Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009
Diagnosis:
Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations
Ching MS , et al. (2010)Cohort Size: 3540
Age Min: 10
Age Max: 168
Average: 70.1
Male: 40
Female: 60
Unknown: -
CNV Size: 315000
Deletion: 10
Duplication: 0
Total CNV: 10
Discovery Method:
aCGH
Validation Method:
PCR
Platform: Agilent 244K
Software: Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
Algorithm: ADM-2
Geographical Ancestry: -
2p16.3
Description:
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
Diagnosis:
Intellectual disability, developmental delay, and/or ASD
Coe BP , et al. (2014)Cohort Size: 29085
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1110000
Deletion: 30
Duplication: 0
Total CNV: 30
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
Diagnosis:
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Chan AJS et al. (2022)Cohort Size: 325
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 489847
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
WGS
Validation Method:
RT-PCR, qPCR, or ddPCR
Platform: Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
Software: ERDS v.1.1, CNVnator v.0.3.2
Algorithm: NA
Geographical Ancestry: Canada
2p16.3
Description:
Autistic proband from a family multiply affected with psychiatric, neurological, and somatic disorders.
Diagnosis:
Autism, mental retardation, and epilepsy. DSM-IV diagnoses deduced using medical records and The Schedules of Clinical Assessment in Neuropsychiatry (version 2.1, program version 1.0.3.5) in interview.
Duong L , et al. (2012)Cohort Size: 1
Age Min: 396
Age Max: 396
Average: 396
Male: 100
Female: -
Unknown: -
CNV Size: 451000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
qPCR
Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Denmark
2p16.3
Description:
Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
Diagnosis:
Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
Van Den Bossche MJ , et al. (2013)Cohort Size: 30065
Age Min: 15
Age Max: 672
Average: 127.06451612903
Male: 54
Female: 46
Unknown: -
CNV Size: 686142
Deletion: 40
Duplication: 0
Total CNV: 40
Discovery Method:
aCGH
Validation Method:
FISH
Platform: Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
Samples from the Autism Genome Project (AGP)
Diagnosis:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Engchuan W , et al. (2015)Cohort Size: 1892
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 499967
Deletion: 27
Duplication: 5
Total CNV: 32
Discovery Method:
Solid phase hybridization
Validation Method:
Yes
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
2p16.3
Description:
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
Diagnosis:
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Fan Y et al. (2018)Cohort Size: 401
Age Min: 18
Age Max: 18
Average: 18
Male: 100
Female: -
Unknown: -
CNV Size: 375000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD
Software: ChAS
Algorithm: -
Geographical Ancestry: Chinese
2p16.3
Description:
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
Diagnosis:
All cases diagnosed with ASD
Feliciano P et al. (2019)Cohort Size: 465
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 36484
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 631
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 373015
Deletion: 9
Duplication: 2
Total CNV: 11
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
2p16.3
Description:
Replication case samples derived from AGRE sets 1-3
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 593
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 241327
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
2p16.3
Description:
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
Diagnosis:
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Deciphering Developmental Disorders Study (2014)Cohort Size: 1133
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 14706
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, WES
Validation Method:
None
Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland
2p16.3
Description:
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
Diagnosis:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Girirajan S , et al. (2013)Cohort Size: 2588
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 459281
Deletion: 7
Duplication: 0
Total CNV: 7
Discovery Method:
aCGH
Validation Method:
aCGH (NimbleGen 135K array)
Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA
2p16.3
Description:
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
Diagnosis:
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Glessner JT , et al. (2009)Cohort Size: 859
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 326956
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, array SNP
Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European
2p16.3
Description:
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
Diagnosis:
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Glessner JT , et al. (2009)Cohort Size: 1336
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 326956
Deletion: 6
Duplication: 0
Total CNV: 6
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, array SNP
Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European
2p16.3
Description:
ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
Diagnosis:
257 cases with autism, 3 cases with Aspberger syndrome
Guilmatre A , et al. (2009)Cohort Size: 260
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: <427000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
QMPSF
Validation Method:
QMPSF, aCGH, FISH
Platform: ABI Prism 3100 sequencer (Applied Biosystems)
Software: GeneScan 3.7
Algorithm: -
Geographical Ancestry: France (231), Italy (29)
2p16.3
Description:
Individuals carrying de novo 2p16.3 deletions affecting the FBXO11 gene from an initial cohort of 23 patients with FBXO11 variants.
Diagnosis:
All four cases presented with developmental delay (DD); three cases also presented with intellectual disability (ID), while one case also presented with seizures (EP).
Gregor A et al. (2021)Cohort Size: 4
Age Min: 46
Age Max: 204
Average: 130.5
Male: 75
Female: 25
Unknown: -
CNV Size: 96310
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
Array SNP, WES
Validation Method:
MLPA
Platform: Affymetrix CytoScan HD
Software: NA
Algorithm: NA
Geographical Ancestry: NA
2p16.3
Description:
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
Diagnosis:
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
Itsara A , et al. (2010)Cohort Size: 1330
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 62136
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
aCGH (custom NimbleGen 12 X 135)
Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -
2p16.3
Description:
Fraternal twins that were born to healthy, non-consanguineous parents presenting with biallelic deletions involving NRXN1
Diagnosis:
Diagnosis of Pitt-Hopkins-like syndrome 2; both cases presenting with autism and severe cognitive deficits, one case also presenting with atypical absence epilepsy
Imitola J , et al. (2014)Cohort Size: 2
Age Min: 84
Age Max: 84
Average: 84
Male: 50
Female: 50
Unknown: -
CNV Size: 282000
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
aCGH
Validation Method:
FISH
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: White
2p16.3
Description:
Fifth child of consanguineous Middle-Eastern parents who are first cousins; both parents, three older sisters, and a brother are all healthy and without symptoms
Diagnosis:
Severe intellectual disability, absent speech, impaired social interactions, stereotypies, failure-to-thrive, and dysmorphic features.
Holmquist P (2014)Cohort Size: 1
Age Min: 48
Age Max: 48
Average: 48
Male: 100
Female: -
Unknown: -
CNV Size: 170000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
MLPA
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: Middle Eastern
2p16.3
Description:
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
Diagnosis:
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Kalsner L , et al. (2017)Cohort Size: 100
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 365000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: Platform not reported
Software: -
Algorithm: -
Geographical Ancestry: 52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
2p16.3
Description:
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
Diagnosis:
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
Husson T , et al. (2020)Cohort Size: 253
Age Min: 72
Age Max: 144
Average: 100
Male: 100
Female: -
Unknown: -
CNV Size: 6167
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH, WES
Validation Method:
WES, ddPCR, QMPSF, aCGH
Platform: Agilent 180K, Illumina HiSeq4000
Software: CANOES
Algorithm: -
Geographical Ancestry: France
2p16.3
Description:
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
Diagnosis:
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
Kaminsky EB , et al. (2011)Cohort Size: 15749
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 572608
Deletion: 13
Duplication: 0
Total CNV: 13
Discovery Method:
aCGH
Validation Method:
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA
2p16.3
Description:
Probands from the Simons Simplex Collection
Diagnosis:
Diagnosis of ASD
Krumm N , et al. (2015)Cohort Size: 2377
Age Min: -
Age Max: -
Average: -
Male: 75
Female: 25
Unknown: -
CNV Size: 408252
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A
2p16.3
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Kushima I , et al. (2018)Cohort Size: 1108
Age Min: 168
Age Max: 828
Average: 466
Male: 17
Female: 83
Unknown: -
CNV Size: 821048
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
2p16.3
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I , et al. (2018)Cohort Size: 2458
Age Min: 168
Age Max: 828
Average: 466
Male: 17
Female: 83
Unknown: -
CNV Size: 247100
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
2p16.3
Description:
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1205
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 821049
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
2p16.3
Description:
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
Diagnosis:
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
Leblond CS , et al. (2019)Cohort Size: 36
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 129800
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization, WES
Validation Method:
SnipPeep and XHMM plot visualizations
Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands
2p16.3
Description:
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
Diagnosis:
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1818
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 563750
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
2p16.3
Description:
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
Diagnosis:
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 3014
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 247101
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
2p16.3
Description:
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
Diagnosis:
ASD
Levy D , et al. (2011)Cohort Size: 858
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 43807
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
aCGH (Agilent 244K)
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
2p16.3
Description:
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
Diagnosis:
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
Lionel AC , et al. (2013)Cohort Size: 5384
Age Min: 288
Age Max: 288
Average: 288
Male: 100
Female: -
Unknown: -
CNV Size: 29973
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA
2p16.3
Description:
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
Diagnosis:
ASD
Marshall CR , et al. (2008)Cohort Size: 427
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 78999
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP, karotyping
Validation Method:
qPCR, qmPCR
Platform: Affymetrix 500K
Software: -
Algorithm: dChip, CNAG, GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
2p16.3
Description:
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
Diagnosis:
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
Morrow EM , et al. (2008)Cohort Size: 94
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 236300
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan
2p16.3
Description:
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
Diagnosis:
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
Munnich A , et al. (2019)Cohort Size: 502
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 250000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH, karyotyping
Validation Method:
FISH
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France
2p16.3
Description:
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
Diagnosis:
Cases were clinically diagnosed with ASD based on DSM-V.
Miyake N et al. (2023)Cohort Size: 405
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 937293
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
Exome sequencing
Validation Method:
qPCR
Platform: Illumina HiSeq 2000/2500
Software: XHMM
Algorithm: NA
Geographical Ancestry: Japan
2p16.3
Description:
Youth with ASD (as part of mother-father-child trios)
Diagnosis:
ASD
Nord AS , et al. (2011)Cohort Size: 41
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 47962
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: 29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
2p16.3
Description:
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
Diagnosis:
Cases assessed for ASD according to DSM-IV behavioral criteria
Oikonomakis V , et al. (2016)Cohort Size: 195
Age Min: 48
Age Max: 72
Average: 60
Male: -
Female: 100
Unknown: -
CNV Size: 249800
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
Software: -
Algorithm: -
Geographical Ancestry: Greece
2p16.3
Description:
Patients diagnosed with ASD recruited from August 2015 to December 2017 in Nagoya City University Hospital (Nagoya, Japan)
Diagnosis:
Cases diagnosed with ASD according to DSM-5 criteria and evaluated using CARS-Tokyo version
Ohashi K et al. (2021)Cohort Size: 48
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 414421
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
WES
Platform: Agilent SurePrint G3 Human CGH 4x160K
Software: Agilent CytoGenomics
Algorithm: -
Geographical Ancestry: Japan
2p16.3
Description:
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
Diagnosis:
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
Pinto D , et al. (2010)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: 75
Female: 25
Unknown: -
CNV Size: 231738
Deletion: 7
Duplication: 1
Total CNV: 8
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European
2p16.3
Description:
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
Diagnosis:
Cases classified according to ADOS and ADI-R
Pinto D , et al. (2014)Cohort Size: 1359
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 369653
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, long-range PCR
Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European
2p16.3
Description:
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
Prasad A , et al. (2013)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 64
Female: 36
Unknown: -
CNV Size: 486832
Deletion: 11
Duplication: 3
Total CNV: 14
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
2p16.3
Description:
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
Diagnosis:
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Roberts JL , et al. (2013)Cohort Size: 215
Age Min: 132
Age Max: 132
Average: 132
Male: -
Female: 100
Unknown: -
CNV Size: 96000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
BACs aCGH or FISH
Platform: 105K or 180K oligonucleotide microarray
Software: Nexus Copy Number (BioDiscovery)
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
Diagnosis:
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
Sajan SA , et al. (2013)Cohort Size: 487
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 292518
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None (not tested or failure to confirm by qPCR)
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
2p16.3
Description:
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
Diagnosis:
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Sanders SJ , et al. (2011)Cohort Size: 1124
Age Min: -
Age Max: -
Average: -
Male: 66
Female: 34
Unknown: -
CNV Size: 513662
Deletion: 40
Duplication: 1
Total CNV: 41
Discovery Method:
Solid phase hybridization
Validation Method:
-
Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2p16.3
Description:
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
Diagnosis:
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Sansovi I , et al. (2017)Cohort Size: 337
Age Min: 72
Age Max: 72
Average: 72
Male: 50
Female: 50
Unknown: -
CNV Size: 61000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia
2p16.3
Description:
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
Diagnosis:
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
Shen Y , et al. (2010)Cohort Size: 848
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 139000
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
Software: CGH Analytics, DNA Analytics software
Algorithm: BRLMM, CNAT4, Partek Genomic Suite
Geographical Ancestry: -
2p16.3
Description:
12 yr. autistic female with scoliosis referred for mild mental retardation (Dept. of Medical Genetics, Afyon Kocatepe Univ., Turkey)
Diagnosis:
ASD
Soysal Y , et al. (2011)Cohort Size: 1
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 191000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: OGT CytoSure 180K
Software: -
Algorithm: -
Geographical Ancestry: Turkish
2p16.3
Description:
22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
Diagnosis:
ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
Schaaf CP , et al. (2012)Cohort Size: 24
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 913000
Deletion: 24
Duplication: 0
Total CNV: 24
Discovery Method:
aCGH
Validation Method:
FISH, PCR, DNA sequencing
Platform: BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
Software: -
Algorithm: -
Geographical Ancestry: Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
2p16.3
Description:
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
Diagnosis:
All cases fulfilled DSM-V criteria for autism
Soueid J , et al. (2016)Cohort Size: 41
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 137000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
2p16.3
Description:
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Diagnosis:
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Soueid J , et al. (2016)Cohort Size: 35
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
2p16.3
Description:
ASD patients from 173 families with at least two affected individuals from AGP
Diagnosis:
Patients diagnosed with ASD based on ADI-R and ADOS
Autism Genome Project Consortium , et al. (2007)Cohort Size: 196
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 355300
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Platform: Affymetrix 10K (v2)
Software: dChip
Algorithm: HMM
Geographical Ancestry: -
2p16.3
Description:
Patients referred for aCGH analysis from 2008-present
Diagnosis:
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Tzetis M , et al. (2012)Cohort Size: 334
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 500000
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece
2p16.3
Description:
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 264 from Belgium, 305 from Sweden, 107 from Scotland
2p16.3
Description:
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
Diagnosis:
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
Van Den Bossche MJ , et al. (2012)Cohort Size: 260
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland
2p16.3
Description:
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 169
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland
2p16.3
Description:
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 1281
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 573000
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 170 from Belgium, 543 from Sweden, 568 from Scotland
2p16.3
Description:
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
Diagnosis:
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Utine GE , et al. (2014)Cohort Size: 100
Age Min: 120
Age Max: 120
Average: 120
Male: 100
Female: -
Unknown: -
CNV Size: 130000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
RT-PCR
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.0
Algorithm: -
Geographical Ancestry: Turkey
2p16.3
Description:
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
Diagnosis:
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
Tammimies K , et al. (2015)Cohort Size: 258
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 488801
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada
2p16.3
Description:
Autistic probands from three families with intragenic rearrangements within the NRXN1 gene
Diagnosis:
Diagnosis of ASD made using ADOS and/or ADI-R.
Winiowiecka-Kowalnik B , et al. (2010)Cohort Size: 3
Age Min: 48
Age Max: 432
Average: 189.66666666667
Male: 33
Female: 67
Unknown: -
CNV Size: 378998
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
aCGH, FISH, long-range PCR
Platform: BCM MGL/Agilent oligo aCGH (CMA V6.3 OLIGO, V6.4 OLIGO, V6.5 OLIGO)
Software: -
Algorithm: -
Geographical Ancestry: NA
2p16.3
Description:
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
Diagnosis:
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Wintle RF , et al. (2011)Cohort Size: 34
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 12500
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP, solid phase hybridization
Validation Method:
Solid phase hybridization
Platform: Affymetrix 6.0, Illumina Human 1M-duo
Software: QuantiSNP, Affymetrix Genotyping Console
Algorithm: PennCNV, Birdsuite, iPattern
Geographical Ancestry: 31 European, 2 East Asian, 1 African
2p16.3
Description:
Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
Diagnosis:
Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
Ye T , et al. (2012)Cohort Size: 486
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 69000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M Duo SNP chip
Software: Illumina GenomeStudio V2010.1
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: NA
2p16.3
Description:
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
Diagnosis:
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
Walker S and Scherer SW (2013)Cohort Size: 1491
Age Min: -
Age Max: -
Average: -
Male: 83
Female: 17
Unknown: -
CNV Size: 118803
Deletion: 5
Duplication: 1
Total CNV: 6
Discovery Method:
Array SNP, solid phase hybridization
Validation Method:
Long-range PCR, qPCR
Platform: Illumina 1M, Affymetrix 6.0
Software: QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
Three unrelated patients with 2p16.3/NRXN1 deletions seen at the Service for Mental Health and Intellectual Disability at the Parc Hospitalari Marti I Julia (Girona, Catalunya, Spain) and referred to the Clinical Genetics Department at the Corporacio Sanitaria Parc Tauli (Sabasell, Catalunya, Spain).
Diagnosis:
All three cases present with intellectual disability; additional diagnoses of bipolar disorder (case 1), ASD (case 2) and ADHD (case 3). Psychopathological evaluation tests: PASS-ADD, Compulsive behavior checklist, and Y-BOCS (cases 1 and 2). Cognitive evaluation tests: K-BIT, FCRO, Color Trail Test 1 and 2, PIEN-ID, BRIEF, ADOS, and Tower of London (cases 1 and 2); WISC-IV, Bayley II, and Reynell (case 3). Behavioral evaluation tests: ABC scale, ABS-RC:2 (cases 1 and 2).
Vias-Jornet M , et al. (2015)Cohort Size: 3
Age Min: 132
Age Max: 252
Average: 208
Male: 67
Female: 33
Unknown: -
CNV Size: 627000
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
MLPA
Platform: Agilent 400K
Software: Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
Algorithm: -
Geographical Ancestry: Spain
2p16.3
Description:
Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
Diagnosis:
All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
Wenger TL , et al. (2016)Cohort Size: 75
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 20800
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A
2p16.3
Description:
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
Diagnosis:
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Wolfe K , et al. (2016)Cohort Size: 202
Age Min: 252
Age Max: 252
Average: 252
Male: -
Female: 100
Unknown: -
CNV Size: 549345
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qPCR, FISH, QF-PCR
Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British
2p16.3
Description:
Cases from unrelated trio families from a cohort of Canadian ASD families
Diagnosis:
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
Yuen RK et al. (2016)Cohort Size: 200
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 39498
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
N/A
Validation Method:
qPCR, Sanger sequencing
Platform: High-resolution microarray platform
Software: Segseq, ERDS
Algorithm: -
Geographical Ancestry: Canada
2p16.3
Description:
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
Diagnosis:
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
C Yuen RK et al. (2017)Cohort Size: 2626
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 246499
Deletion: 5
Duplication: 0
Total CNV: 5
Discovery Method:
WGS
Validation Method:
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A
2p16.3
Description:
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Zhang Y et al. (2023)Cohort Size: 354
Age Min: 24
Age Max: 24
Average: 24
Male: 100
Female: -
Unknown: -
CNV Size: 650589
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
qPCR
Platform: Illumina Novaseq
Software: CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
Algorithm: NA
Geographical Ancestry: China
ahn_13_SCZ_discovery_cases-NSB_ID581
Clinical Profile:
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
Cognitive Profile:
IQ 70
Ahn K , et al. (2013)Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49944520
CNV End: 50056347
CNV Size: 111828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
agha_14_ID/EP_discovery_cases-caseIII:2
Clinical Profile:
Epilepsy/seizures: yes. Other features: suffered from insulin-dependent diabetes mellitus since age of 22 years. Family history: two affected male offspring with NRXN1 deletion (caseIV:5 and caseIV:6); four intellectually normal children with no congenital abnormality (one unaffected child did not inherit NRXN1 deletion; the others not tested)
Cognitive Profile:
Mild intellectual disability/learning disabilities
Agha Z , et al. (2014)Primary Diagnosis: Intellectual disability and epilepsy
Age: 72 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 49982862
CNV End: 50592862
CNV Size: 610001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
agha_14_ID/EP_discovery_cases-caseIV:5
Clinical Profile:
Birth/neonatal history: born after 40 weeks of gestation after uneventful pregnancy; microcephaly noted at birth. Developmental milestones: started walking at age of 11 months, speaking at age of 4 years. Langauge and communication evaluation: normal speech; poor comprehension; unable to count or write; highly pitched shrill voice. Motor and musculoskeletal evaluation: normal gait. Brain imaging: accentuated white matter of cerebrum and cerebellum on brain MRI. Dysmorphic features: synophrys, prominent irregular shaped long nose, short philtrum, deep set eyes, bilateral convergent strabismus, posteriorly rotated ears, complete hyponychia of fingers and toes. Other features: hyperhidrosis. Growth parameters: symmetrical microcephaly, relatively short stature and obesity; height of 162 cm, weight of 76 kg, BMI of 27.8, head circumference of 46 cm (<-2 SD). Family history: similarly affected younger brother (caseIV:6) and mother (caseIII:2). Additional genetic information: carries homozygous missense mutation in RBBP8 gene.
Cognitive Profile:
Intellectual disability
Agha Z , et al. (2014)Primary Diagnosis: Intellectual disability
Age: 40 yrs.
Gender: M
Primary Disorder Inheritence: Possibly maternal
Family Profile: Multi-generational
CNV Start: 49982862
CNV End: 50592862
CNV Size: 610001
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
agha_14_ID/EP_discovery_cases-caseIV:6
Clinical Profile:
Language and communication evaluation: able to speak only a few words; high-pitched and shrill voice. Behavioral/psychiatric evaluation: very aggressive behavior. Epilepsy/seizures: yes (epileptic seizures not diagnosed). EEG: not recorded. Dysmorphic features: synophrys, deeply set eyes, large prominent irregularly shaped nose, posteriorly rotated ears, hyponychia of fingers and toes. Other features: hyperhidrosis since an early age. Growth parameters: microcephaly, obesity and short stature; height of 156 cm, weight of 69 kg, BMI of 25.2, head circumference of 47 cm (< -2 SD). Family history: similarly affected older brother (caseIV:5) and mother (caseIII:2). Additional genetic information: carries homozygous missense mutation in RBBP8 gene.
Cognitive Profile:
Intellectual disability
Agha Z , et al. (2014)Primary Diagnosis: Intellectual disability and epilepsy
Age: 39 yrs.
Gender: M
Primary Disorder Inheritence: Possibly maternal
Family Profile: Multi-generational
CNV Start: 49982862
CNV End: 50592862
CNV Size: 610001
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case1
Clinical Profile:
Birth/neonatal history: delivery by caesarean section (due to toxemia of pregnancy). Developmental milestones: developmental delay (TDQ 30), delayed ability to walk (21 months), speech delay (only achieved vocalization). Motor and musculoskeletal evaluation: absence of sphincter control, hypotonia, balancing and motor skill problems. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ADOS-2), tantrums, self-injurious behavior, trichotillomania, bruxism. Additional medical history: post-infectious cerebellitis, dysmorphic features.
Cognitive Profile:
-
Alfieri P et al. (2020)Primary Diagnosis: ASD and developmental delay
Age: 4 yrs. 6 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50205526
CNV End: 50308999
CNV Size: 103474
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
alfieri_20_ASD/DD/ID_discovery_cases-case2
Clinical Profile:
Birth/neonatal history: premature birth (34/35 weeks gestation) following a pregnancy complicated by exposure to smoking and medication. Developmental milestones: developmental delay (TDQ 44), delayed ability to walk (24 months), speech delay (babbling at 7 months, arrested). Motor and musculoskeletal evaluation: absence of sphincter control, hypotonia, slight chewing difficulties. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ADOS-2). Additional medical history: dysmorphic features.
Cognitive Profile:
-
Alfieri P et al. (2020)Primary Diagnosis: ASD and developmental delay
Age: 4 yrs. 1 mo.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50859709
CNV End: 51183988
CNV Size: 324280
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
alfieri_20_ASD/DD/ID_discovery_cases-case3
Clinical Profile:
Birth/neonatal history: delivery by caesarean section following a pregnancy complicated by maternal depression at the 6th gestational month. Developmental milestones: delayed ability to walk (16 months), speech delay (first words at 24 months), delayed sphincter control (42 months). dysmorphic features, epilepsy (onset at 33 months), multiple ear infections, motor dysregulation, and attention problems (patient 3 in this report).
Cognitive Profile:
Borderline intellectual disability (NVIQ 74)
Alfieri P et al. (2020)Primary Diagnosis: Developmental delay and intellectual disability
Age: 8 yrs. 5 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50587538
CNV End: 50659308
CNV Size: 71771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case4
Clinical Profile:
Birth/neonatal history: delivery complicated by obstructed labor. Developmental milestones: delayed sphincter control (54 months). Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ADOS-2), paranoid ideation, aggressive behavior. Additional medical history: non-specific gliotic tissue alteration, ectasis of several medullary veins, dysmorphic features, food allergies (nuts, peaches, and tomatoes), selective deficit of immunoglobulin A, recurrent respiratory infections.
Cognitive Profile:
Intellectual disability (FSIQ 50)
Alfieri P et al. (2020)Primary Diagnosis: ASD and intellectual disability
Age: 15 yrs. 3 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50809966
CNV End: 52112517
CNV Size: 1302552
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CRYGGP, CCDC12P1, ZNF863P, KNOP1P3, NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case5
Clinical Profile:
Birth/neonatal history: intrauterine growth retardation, delivery by caesarean section due to breech presentation. Developmental milestones: delayed ability to walk (16 months). Behavioral/psychiatric evaluation: sleep disturbance, behavioral abnormalities (talking to himself, shyness, withdrawing and avoidant behaviors). Additional medical history: dysmorphic facial features. Growth parameters: relative microcephaly (HC 3rd-10th %ile), short stature (height < 3rd %ile), decreased body weight (< 3rd %ile).
Cognitive Profile:
Borderline intellectual disability (NVIQ 72)
Alfieri P et al. (2020)Primary Diagnosis: Developmental delay and intellectual disability
Age: 11 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50665709
CNV End: 50810025
CNV Size: 144317
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case1
Clinical Profile:
ASD, speech and language delay, ADHD, hallucinations
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD, DD, and ADHD
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 49910893
CNV End: 49987638
CNV Size: 76746
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case10
Clinical Profile:
Speech and language delay, seizures, sensorineural hearing loss
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay and epilepsy/seizures
Age: 2 yrs. 9 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50654857
CNV End: 50772687
CNV Size: 117831
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case11
Clinical Profile:
Speech and language delay, seizures, hypotonia
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay and epilepsy/seizures
Age: 11 yrs. 3 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50710306
CNV End: 50939587
CNV Size: 229282
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case12
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 7 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50720532
CNV End: 50737769
CNV Size: 17238
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case13
Clinical Profile:
Speech and language delay, Tetralogy of Fallot
Cognitive Profile:
Not reported
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay
Age: 1 yr. 6 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50730317
CNV End: 50794373
CNV Size: 64057
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case14
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 11 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Multi-generational
CNV Start: 50730317
CNV End: 51024419
CNV Size: 294103
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case15
Clinical Profile:
Intrauterine growth retardation, right aortic arch, dysplastic ear
Cognitive Profile:
Not available
Al Shehhi M , et al. (2018)Primary Diagnosis: Multiple congenital anomalies
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50737710
CNV End: 50985200
CNV Size: 247491
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case16
Clinical Profile:
ASD, speech and language delay, hypotonia, pyloric stenosis
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 9 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50737710
CNV End: 51024419
CNV Size: 286710
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case17
Clinical Profile:
Speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50741315
CNV End: 50816419
CNV Size: 75105
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case18
Clinical Profile:
ASD, speech and language delay, sensorineural hearing loss
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50741315
CNV End: 51033474
CNV Size: 292160
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case19
Clinical Profile:
ASD, speech and language delay, psychosis
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD, DD, and psychosis
Age: 18 yrs.
Gender: F
Primary Disorder Inheritence: Paternal
Family Profile: Multi-generational
CNV Start: 50754975
CNV End: 51219735
CNV Size: 464761
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case2
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 8 yrs. 4 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50236383
CNV End: 50278527
CNV Size: 42145
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case20
Clinical Profile:
Seizures, ventriculomegaly, contractures, low-set ears
Cognitive Profile:
No learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Epilepsy/seizures
Age: 1 mo.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50786488
CNV End: 50839499
CNV Size: 53012
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case21
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50830686
CNV End: 50915770
CNV Size: 85085
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case22
Primary Diagnosis: Microcephaly
Age: 1 yr. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50839440
CNV End: 50873333
CNV Size: 33894
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case23
Clinical Profile:
ASD, speech and language delay, short stature
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50856272
CNV End: 50945044
CNV Size: 88773
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case24
Clinical Profile:
Aortic stenosis, cleft lip and palate
Cognitive Profile:
Not reported
Al Shehhi M , et al. (2018)Primary Diagnosis: Multiple congenital anomalies
Age: 1 yr.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50856272
CNV End: 50974331
CNV Size: 118060
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case25
Clinical Profile:
Speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay
Age: 8 yrs. 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50871440
CNV End: 50886978
CNV Size: 15539
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case26
Clinical Profile:
Speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay
Age: 8 yrs. 1 mo.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50882552
CNV End: 51087292
CNV Size: 204741
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
No learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 20 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50894953
CNV End: 51087292
CNV Size: 192340
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case28
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 7 yrs. 10 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50894953
CNV End: 51155734
CNV Size: 260782
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case29
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 4 yrs. 3 mos.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Multi-generational
CNV Start: 50894953
CNV End: 51379119
CNV Size: 484167
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case3
Clinical Profile:
ASD, speech and language delay.
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Extended multiplex
CNV Start: 50256514
CNV End: 50268753
CNV Size: 12240
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Extended multiplex
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case30
Clinical Profile:
ASD, speech and language delay, Wilm's tumor
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 20 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50909933
CNV End: 51087292
CNV Size: 177360
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case31
Clinical Profile:
ASD, speech and language delay, seizures
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD, DD, and epilepsy/seizures
Age: 21 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50921370
CNV End: 51024419
CNV Size: 103050
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case32
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 7 yrs. 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50925914
CNV End: 51033474
CNV Size: 107561
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case33
Clinical Profile:
Tetralogy of Fallot
Cognitive Profile:
No learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Congenital heart defect
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50985141
CNV End: 51009921
CNV Size: 24781
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case34
Clinical Profile:
ASD, speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51009862
CNV End: 51033474
CNV Size: 23613
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case4
Clinical Profile:
ASD, speech and language delay, pectus excavatum, ADHD
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and ADHD
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Extended multiplex
CNV Start: 50256514
CNV End: 50268753
CNV Size: 12240
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Extended multiplex
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case5
Clinical Profile:
Speech and language delay, gross motor delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Extended multiplex
CNV Start: 50256514
CNV End: 50268753
CNV Size: 12240
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Extended multiplex
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case6
Clinical Profile:
Speech and language delay, seizures, hypotonia, anal stenosis
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay and epilepsy/seizures
Age: 11 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50339830
CNV End: 50669923
CNV Size: 330094
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case7
Clinical Profile:
ASD, speech and language delay, seizures
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD, DD, and epilepsy/seizures
Age: 24 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50463846
CNV End: 50642926
CNV Size: 179081
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case8
Clinical Profile:
Speech and language delay
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: Developmental delay
Age: 5 yrs. 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50482400
CNV End: 50532862
CNV Size: 50463
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
al_shehhi_18_ASD/DD/ID_discovery_cases-case9
Clinical Profile:
ASD, speech and language delay, seizures
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD, DD, and epilepsy/seizures
Age: 5 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: 50654857
CNV End: 50720591
CNV Size: 65735
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
ben-david_11_ASD_discovery_cases-proband15
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49131265
CNV End: 50953285
CNV Size: 1822000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NRXN1, FSHR
bermudez-wagner_13_DD_discovery_cases-case1
Clinical Profile:
Birth/neonatal history: pregnancy complicated by pre-eclampsia at 18 weeks of gestation; delivery by C-section for premautre rupture of membranes. Developmental milestones: sat unsupported at 12 months, walked at 2 years, said first words at 1 year, used phrases between 30-36 months; at 8 years of age, case was 6-18 months behind her peers. Language and communication evaluation: speech delay, halting speech. Motor and musculoskeletal evaluation: hypotonia, hyperreflexia, poor coordination and balance; brachydactyly, 5th finger clinodactyly, single crease on each 5th finger, hallus valgus, small 2nd toes. Other features: medical history comprised a Morgagni-type diaphragmatic defect, patent ductus arteriosus, and umbilical hernia that were all surgically repaired, as well as failure to thrive, gastrointestinal reflux disease, astigmatism, asthma, and recurrent otitis media requiring tympanostomy tubes. Dysmorphic features: plagiocephaly, bilateral ptosis with downslanting palpebral fissures, long nose with anteverted nares, smooth philtrum, wide mouth, thin upper lip, high palate, dimples on both lateral gluteal areas and sacral area, nail hypoplasia on hands and feet. Growth parameters: short stature; height 108 cm (<3rd %ile), weight 16.8 kg (<3rd %ile), head circumference 47 cm (<3rd %ile). Family history: twin sister died at 28 days with necrotizing enterocolitis; case currently has a healthy 12-year-old sister (genetic testing results N/A); father diagnosed with ADHD, cognitive difficulties early in life, obesity, sleep apnea, left ventricular cardiomyopathy, severe asthma, astigmatism, and left-sided esotropia; paternal great-aunt and her son reportedly had mental retardation.
Cognitive Profile:
Developmental delay
Bermudez-Wagner K , et al. (2012)Primary Diagnosis: Developmental delay
Age: 9 yrs.
Gender: F
Primary Disorder Inheritence: Possibly paternal
Family Profile: Simplex
CNV Start: 50809965
CNV End: 50999092
CNV Size: 189128
Validation Description: -
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case1
Clinical Profile:
Motor developmental delay, language delay, seizures, hypotonia, dysmorphic features, growth -2.5 SD, sleep disturbance
Cognitive Profile:
Severe intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50113358
CNV End: 51263358
CNV Size: 1150001
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case10
Clinical Profile:
Lanaguge delay, seizures, dysmorphic features, normal growth, periventricular nodular heterotopia, lambdoidsynsostosis, abnormal thumb, micropenis.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50767098
CNV End: 51090333
CNV Size: 323236
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Possible de novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case11
Primary Diagnosis: Other (non-ASD/-NDD)
Age: 17 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50786509
CNV End: 51076772
CNV Size: 290264
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case12
Clinical Profile:
Motor developmental delay, language delay, hypotonia, growth +3 SD, temporal arachnoidal cyst, celiac disease. 2p16.3/NRXN1 deletion inherited from father with history of depression and ASD on the paternal side of the family.
Cognitive Profile:
No intellectual disabilty
Bna F , et al. (2013)Primary Diagnosis: ASD
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Unknown
CNV Start: 50734778
CNV End: 51003136
CNV Size: 268359
Validation Description: MLPA
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case13
Clinical Profile:
Motor developmental delay, langauge delay, seizures, hypotonia, dysmorphic features, normal growth, OFC +2 SD.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 25 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50279146
CNV End: 50504064
CNV Size: 224919
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case14
Clinical Profile:
Motor developmental delay, language delay, normal growth and OFC. Older brother (bena_13_ASD/DD/ID_discovery_cases-case15) also carries 2p16.3/NRXN1 deletion and 18q23 triplication.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50577842
CNV End: 50794350
CNV Size: 216509
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case15
Clinical Profile:
Motor developmental delay, language delay, normal growth and OFC, hyperactivity. Younger brother (bena_13_ASD/DD/ID_discovery_cases-case14) also carries 2p16.3/NRXN1 deletion and 18q23 triplication.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50577842
CNV End: 50794350
CNV Size: 216509
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case16
Clinical Profile:
Motor developmental delay, language delay, hypotonia, dysmorphic features, normal growth and OFC.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50817937
CNV End: 51034322
CNV Size: 216386
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case17
Clinical Profile:
Motor developmental delay, seizures, dysmorphic features, normal growth, limb stereotypes.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 8 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50613140
CNV End: 50829323
CNV Size: 216184
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case18
Clinical Profile:
Motor developmental delay, seizures, normal muscle tone (no hypotonia), normal growth, hyperactivity, hydrocephalus communicans, hyperacusis, hyperlaxity.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 24 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50948358
CNV End: 51131884
CNV Size: 183527
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case19
Clinical Profile:
Motor developmental delay, language delay, seizures, hypotonia, normal growth, OFC +1 SD, hyperactivity. Case carries inherited compound heterozygous 2p16.3/NRXN1 deletion.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 10 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50882552
CNV End: 51063885
CNV Size: 181334
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case19
Clinical Profile:
Motor developmental delay, language delay, seizures, hypotonia, normal growth, OFC +1 SD, hyperactivity. Case carries inherited compound heterozygous 2p16.3/NRXN1 deletion.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 10 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50882552
CNV End: 51283823
CNV Size: 401272
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case2
Primary Diagnosis: ASD
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50716390
CNV End: 51331953
CNV Size: 615564
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Possible de novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case20
Primary Diagnosis: Developmental delay
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50873274
CNV End: 51024419
CNV Size: 151146
Validation Description: FISH, MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case21
Clinical Profile:
Motor developmental delay, language delay, normal growth, OFC +1.5 SD, hyperactivity. 2p16.3/NRXN1 deletion inherited from mother diagnosed with attention deficit disorder and atypical autism (mostly impairments in social interaction).
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Unknown
CNV Start: 50816360
CNV End: 50925968
CNV Size: 109609
Validation Description: aCGH
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case22
Clinical Profile:
Normal motor development, hypotonia, growth -3 SD.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 59 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50894752
CNV End: 50999231
CNV Size: 104480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case23
Clinical Profile:
Motor developmental delay, language delay, seizures, dysmorphic features, normal growth, hyperactivity.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50393101
CNV End: 50486385
CNV Size: 93285
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case24
Clinical Profile:
Motor developmental delay, language delay, normal growth. Younger brother (bena_13_ASD/DD/ID_discovery_cases-case25) diagnosed with ASD and ID also carries 2p16.3/NRXN1 deletion, which was transmitted from a father with mild autistic features.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Multiplex
CNV Start: 50860892
CNV End: 51340397
CNV Size: 479506
Validation Description: MLPA
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case25
Clinical Profile:
Normal growth. Older brother (bena_13_ASD/DD/ID_discovery_cases-case24) diagnosed with ASD and ID also carries 2p16.3/NRXN1 deletion, which was transmitted from a father with mild autistic features.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Multiplex
CNV Start: 50860892
CNV End: 51340397
CNV Size: 479506
Validation Description: MLPA
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case3
Clinical Profile:
Motor developmental delay, language delay, seizures, dysmorphic features, growth -2.5 SD, OFC -2.2 SD, hyperactivity, Angelman-like symptoms
Cognitive Profile:
Moderate developmental delay, intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50741114
CNV End: 51352724
CNV Size: 611611
Validation Description: FISH and aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case4
Clinical Profile:
Motor developmental delay, hypotonia, normal growth, OFC -1 SD
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50558041
CNV End: 51087389
CNV Size: 529349
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case5
Clinical Profile:
Language delay, seizures, dysmorphic features, growth -1 SD, OFC -1.5 SD, kyphoscoliosis. 2p16.3/NRXN1 deletion inherited from mother with learning difficulties and depression.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 26 yrs.
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Unknown
CNV Start: 50296198
CNV End: 50765153
CNV Size: 468956
Validation Description: qPCR
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case6
Clinical Profile:
Motor developmental delay, language delay, seizures, hypotonia, dysmorphic features, normal growth.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50703043
CNV End: 51099359
CNV Size: 396317
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bena_13_ASD/DD/ID_discovery_cases-case7
Clinical Profile:
Motor developmental delay, langauge delay, normal msucle tone (no hypotonia), dysmorphic features, normal growth and OFC, hyperactivity, automutilation and aggressive behavior. 2p16.3/NRXN1 deletion inherited from mother with moderate ID and possible autistic-like features.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 31 yrs.
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Unknown
CNV Start: 50561587
CNV End: 50960161
CNV Size: 398575
Validation Description: aCGH
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case8
Primary Diagnosis: Other (non-ASD/-NDD)
Age: 55 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50636024
CNV End: 50999696
CNV Size: 363673
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
bena_13_ASD/DD/ID_discovery_cases-case9
Clinical Profile:
Language delay, seizures, dysmorphic features, normal growth. 2p16.3/NRXN1 deletion inherited from mother with anxiety and depression.
Cognitive Profile:
Intellectual disability
Bna F , et al. (2013)Primary Diagnosis: ASD and intellectual disability
Age: 10 yrs.
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Unknown
CNV Start: 50814334
CNV End: 51143323
CNV Size: 328990
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
brandler_16_ASD_discovery_cases_probandIII-2
Clinical Profile:
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician. Family history: NRXN1 deletion occurred de novo in unaffected mother (II-1); case has an older brother with ASD who did not inherit NRXN1 deletion (III-1).
Cognitive Profile:
-
Brandler WM , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50603766
CNV End: 50769367
CNV Size: 165602
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
brandler_18_ASD_discovery_cases-caseREACH000322
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50603762
CNV End: 50769364
CNV Size: 165603
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
brandler_18_ASD_discovery_cases-caseSSC07045
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50928135
CNV End: 51432922
CNV Size: 504788
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_discovery_cases-caseSSC08567
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51007302
CNV End: 51106589
CNV Size: 99288
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-case2-1428-003
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50527083
CNV End: 50773241
CNV Size: 246159
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
brandler_18_ASD_replication_cases-case3-0207-000
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50951513
CNV End: 51147537
CNV Size: 196025
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-case3-0368-000
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50340805
CNV End: 50830652
CNV Size: 489848
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
benitez-burraco_23_DD/ID_discovery_cases-case1
Clinical Profile:
Birth/neonatal history: born by C-section after an uncomplicated pregnancy; birth weight 2.6 kg; presented with congenital torticollis; fed with artificial lactation with smooth transition to solid foods. Developmental milestones: diagnosed with global psychomotor developmental delay at 9 months; severe mixed language delay. Language and communication evaluation: impaired language characterized by altered speech production, underdeveloped phonological awareness, minimal syntax, severe shortage of active vocabulary, impaired receptive language, inappropriate pragmatic behavior (including lack of metapragmatic awareness and communicative use of gaze). Behavioral/psychiatric evaluation: attention deficit, poor imitation capacity, absence of symbolic play, difficulties with normal social interaction, difficulties expressing and identifying emotions, ritualized and disordered sensory behaviors (smelling objects), impaired theory of mind, impulsivity. Brain imaging: brain MRI at 13 months suggested an increase in extra-axial spaces, supratentorial ventriculomegaly, and mega cisterna magna. Additional medical history: anemia at 17 months of age. Family history: father with motor tics, paternal uncle with schizophrenia and intellectual disability, and paternal great-grandmother with cognitive and motor impairment.
Cognitive Profile:
Moderate intellectual disability, learning difficulties
Bentez-Burraco A et al. (2023)Primary Diagnosis: Developmental delay, intellectual disability, and autistic features
Age: 8 yrs. 1 mo.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50534639
CNV End: 50720591
CNV Size: 185953
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, MTCO1P42, NRXN1
bucan_09_ASD_discovery_cases-patient10
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 373015
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_discovery_cases-patient11
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 439406
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_discovery_cases-patient7
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 19979
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_discovery_cases-patient8
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 152437
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_discovery_cases-patient9
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 241327
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_replication_cases-patient3
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 134010
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_replication_cases-patient4
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 161199
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_replication_cases-patient5
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 256373
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bucan_09_ASD_replication_cases-patient6
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 533842
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
bremer_11_ASD_discovery_cases-case1
Clinical Profile:
Non-syndromic ASD, sporadic case
Cognitive Profile:
MR (IQ<70)
Bremer A , et al. (2011)Primary Diagnosis: ASD
Age: 6
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 50894953
CNV End: 51063885
CNV Size: 168933
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
bremer_11_ASD_discovery_cases-case1
Clinical Profile:
Non-syndromic ASD, sporadic case
Cognitive Profile:
MR (IQ<70)
Bremer A , et al. (2011)Primary Diagnosis: ASD
Age: 6
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 50882552
CNV End: 51301336
CNV Size: 418785
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-caseAU4145301
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50953771
CNV End: 51022928
CNV Size: 69158
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-caseAU4145303
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50953771
CNV End: 51022928
CNV Size: 69158
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-caseSSC12931
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50859177
CNV End: 50935252
CNV Size: 76076
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
cameli_21_ASD_discovery_cases-case1
Clinical Profile:
Case diagnosed with ASD at 35 months (CARS2-ST and ADOS-2 module 1). Birth/neonatal history: no pre-, peri-, or post-natal relevant findings; birth weight 3690 g (50th %ile), birth length 56 cm (85th-97th %ile). Developmental milestones: slight delay in socio-communicative abilities followed by regression of acquired socio-communicative abilities at 18-19 months; speech delay. Language and communication evaluation: languge expression limited to 4 single words at 4.6 years; language comprehension appeared to be slightly better. Behavioral/psychiatric evaluation: poor eye contact; social isolation; loss of imitiation skills, communicative gestures, and language; hyperactivity; short attention span; stereotypy (hand flapping when excited); sensory interests (manipulation of materials to get visual, acoustic, and tactile stimulation); restricted interests. Epilepsy/seizures: none reported. EEG: slow activity in the right temporal regions at 2.8 years. Brain imaging: not performed. Growth parameters: congenital macrocephaly (HC at birth, 31 months, and 60 months >98th %ile). Family history: this deletion was inherited from an unaffected mother, and no family history of ASD, congenital malformations, or intellectual disability was reported.
Cognitive Profile:
Cognitive and psychomotor development level could not be assessed using standardized scales due to lack of child's compliance; assessment of adaptive behavior (VABS) at 4.8 years showed significant delays in Communication, Daily Living Skills, Socialization, and Motor Skills domain (age equivalent of 1.6 years).
Cameli C et al. (2021)Primary Diagnosis: ASD
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 49943627
CNV End: 50755034
CNV Size: 811408
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR8485, MTCO1P42, NRXN1
chan_22_ASD_discovery_cases-case3-0207-000
Clinical Profile:
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Developmental milestones: developmental regression (loss of a 5-word vocabulary at 13 months, followed by re-emergence of speech a few months later), receptive language delay, expressive language delay. Dysmorphic features: midface hypoplasia, outstanding ears, low frontal hairline (this feature was also present in both parents). Growth parameters: macrocephaly (head circumference +2.5 SD) (this feature was also present in both parents). Family history: his father received special education at school and had pediatric-onset depression.
Cognitive Profile:
-
Chan AJS et al. (2022)Primary Diagnosis: ASD and developmental delay
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50951514
CNV End: 51147537
CNV Size: 196024
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
chan_22_ASD_discovery_cases-case3-0368-000
Clinical Profile:
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: patent ductus arteriosus noted at birth (closed spontaneously). Epilepsy/seizures: seizures. Brain imaging: nodular heterotopia of the frontal lobe. Additional medical history: hypertropic cardiomyopathy (resolved and attributed to insulin-dependent diabetes mellitus during pregnancy). Dysmorphic features: frontal cowlick, long palpebral fissures, midface hypoplasia, wide mouth. Growth parameters: macrocephaly.
Cognitive Profile:
Cognitive evaluation at 6 years 3 months demonstrated a full scale IQ score of 98, a listening comprehension standard score of 91 (27th centile), and an oral expression standard score of 87 (19th centile).
Chan AJS et al. (2022)Primary Diagnosis: ASD and seizures
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50340806
CNV End: 50830652
CNV Size: 489847
Validation Description: RT-PCR, qPCR, or ddPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, MTCO1P42, NRXN1
ching_10_ASD/DD/MR_discovery_cases-case10
Clinical Profile:
Diagnosis of PDD-NOS (ADOS). Expressive & receptive language delay. Dysmorphic features: dolichocephaly (32 wk premature infant). Hemangioma on back.
Cognitive Profile:
Normal
Ching MS , et al. (2010)Primary Diagnosis: PDD-NOS
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50633655
CNV End: 50772687
CNV Size: 139033
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
ching_10_ASD/DD/MR_discovery_cases-case11
Clinical Profile:
Proximal & distal weakness, hypotonia. Chest-right mild Poland anomaly. Eczema. Family history: mother with history of joint hypermobility, osteoarthritis, mitral valave prolapse, severe migraines, & severe breast asymmetry (mother was source of 2p16.3 deletion, 15q26.3 duplication, and 17p11.2 duplication).
Cognitive Profile:
Normal
Ching MS , et al. (2010)Primary Diagnosis: Other
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50654857
CNV End: 50730376
CNV Size: 75520
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
ching_10_ASD/DD/MR_discovery_cases-case12
Clinical Profile:
Dysmorphic features: relative macrocephaly (head circumference 90%ile), cupping of left ear, frontal bossing. Open anterior fontanelle at 19 mos. Cardiac anomalies: small muscular ventricular septal defect (VSD), fenestration in atrial septum, small patent ductus arteriosus (PDA).
Cognitive Profile:
Not evaluated
Ching MS , et al. (2010)Primary Diagnosis: Other
Age: 19 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50654857
CNV End: 50720591
CNV Size: 65735
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
ching_10_ASD/DD/MR_discovery_cases-case3
Clinical Profile:
Mild gross motor delay, hypotonia. Dysmorphic features: epicanthal folds, hypertelorism. Prominent coronal sutures, smaller bifrontal region, feet: high arches & somewhat small length
Cognitive Profile:
Not evaluated
Ching MS , et al. (2010)Primary Diagnosis: Developmental delay
Age: 10 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50816360
CNV End: 51131743
CNV Size: 315384
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
ching_10_ASD/DD/MR_discovery_cases-case4
Clinical Profile:
Diagnosis of PDD-NOS (ADOS). Expressive language delay. Hypotonia. Behavioral features: attention concerns. Normal EEG. Facial dysmorphism: down-slanting palpebral fissures, up-turned nose, mild retrognathia, pointed chin. Famiyl history: socially akward father (source of 2p16.3 deletion).
Cognitive Profile:
WPPSI-III: Verbal IQ, 77; Performance IQ, 98 (testing at 4 yrs.)
Ching MS , et al. (2010)Primary Diagnosis: PDD-NOS
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50856272
CNV End: 51087292
CNV Size: 231021
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
ching_10_ASD/DD/MR_discovery_cases-case5
Clinical Profile:
6 month receptive language delay. Curved 2nd toes, incomplete fusion of ring of 1st cervical vertebra. Narrowed aortic arch, 2 ventricular septal defects (VSDs)
Cognitive Profile:
Normal
Ching MS , et al. (2010)Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50839440
CNV End: 50978827
CNV Size: 139388
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
ching_10_ASD/DD/MR_discovery_cases-case6
Clinical Profile:
Diagnosis of PDD-NOS (ADOS). Expressive language delay. Motor coordination disorder. No dysmorphic features. Bilateral hip dysplasia. Prolonged correct QT interval (QTc, 457 ms; normal < 440 ms), hemagomia. Family history: mother with history of language delay & social skills difficulties (mother was source of 2p16.3 deletion).
Cognitive Profile:
Bayley II Mental Scale 91, 29 mos. (age at testing, 31 mos.)
Ching MS , et al. (2010)Primary Diagnosis: PDD-NOS
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50978768
CNV End: 51235754
CNV Size: 256987
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
ching_10_ASD/DD/MR_discovery_cases-case7
Clinical Profile:
Diagnosis of autism (ADOS). Expressive & receptive language delay. Hyperactivity. Normal EEG. Dysmorphic features: slightly deep set eyes, large ears.
Cognitive Profile:
Mental retardation. Stanford-Binet 5th edition: Full-scale IQ, 47; Verbal IQ, 46; Non-verbal IQ, 53.
Ching MS , et al. (2010)Primary Diagnosis: Autism + mental retardation
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 51009862
CNV End: 51131743
CNV Size: 121882
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
ching_10_ASD/DD/MR_discovery_cases-case8
Clinical Profile:
Expressive & receptive language delay. Behavioral features: inattention, fidgety, disorganized. Dysmorphic features: long face, malar hypoplasia, prominent tubular nose with pointed nasal tip, hypoplastic alae nase, long flat philtrum, thin vermilion, prominent chin, long slender fingers, thin toes.
Cognitive Profile:
Mental retardation. WISC-IV: Verbal Comprehension Index, 67; Perceptual Reasoning Index, 63; Working Memory Index, 59; Processing Speed Index, 75; Full-scale IQ, 58 (testing at 11 yrs.)
Ching MS , et al. (2010)Primary Diagnosis: Mental retardation
Age: 11 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50442250
CNV End: 50747125
CNV Size: 304876
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
ching_10_ASD/DD/MR_discovery_cases-case9
Clinical Profile:
Expressive & receptive language delay. Hypotonia. Behavioral features: impulsivity & inattention. Dysmorphic features: low nasal bridge, small jaw, very smooth philtrum, slightly flat mid-face and prominent cheeks. Mild clinodactyly & uneven digit lengths.
Cognitive Profile:
-
Ching MS , et al. (2010)Primary Diagnosis: Developmental delay
Age: 4 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50608638
CNV End: 50772687
CNV Size: 164050
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case511
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case512
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case513
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case514
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case515
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case516
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case517
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case518
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case519
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case520
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case521
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case522
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case523
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case524
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case525
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case526
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case527
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case528
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case529
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case530
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case531
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case532
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case533
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case534
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case535
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case536
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case537
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case538
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case539
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
coe_14_ASD/DD/ID_discovery_cases-case540
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient10
Clinical Profile:
Indication for study: pervasive developmental disorder (PDD). Neurological features: IQ 76, speech delay, tic disorder, hypotonia. Behavioral features: pervasive developmental disorder-not otherwise specified (PDD-NOS), ADHD. Dysmorphic features: prominent forehead, deep-set eyes, upslanting palpebral fissures, prominent nose with broad tip, high palate, maxillary hypoplasia, underbite. Ophthalmologic features: retinopathy. Skeletal/joint features: ligamentous laxity, hammertoes. Other anomalies: none. Growth parameters: height 27th %ile; weight 25th %ile; OFC 80th %ile. Family history: adopted.
Cognitive Profile:
IQ 76
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: PDD-NOS and ADHD
Age: 8 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50910263
CNV End: 51108604
CNV Size: 198342
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient11
Clinical Profile:
Indication for study: cystic hygroma, hydrops, micrognathia. Dysmorphic features: prominent eyes, ridge coronal suture, micrognathia, webbed neck. Other anomalies: septated cystic hygroma, hydrops, peripheral branch pulmonic stenosis; deceased (sepsis). Family history: father with 2p16.3/NRXN1 deletion is healthy.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: MCA and premature death
Age: Prenatal
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50908507
CNV End: 51097510
CNV Size: 189004
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient12
Clinical Profile:
Indication for study: mild intellectual disability, hearing loss. Neurological features: mild ID, speech delay, hypotonia, hearing loss (due to infection). Behavioral features: attention deficit disorder (ADD). Dysmorphic features: deep-set eyes, short palpebral fissures, midface hypoplasia, bulbous nose, irregular teeth, protruding & malformed ears. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: allergies. Growth parameters: height 50th-75th %ile; weight 50th-75th %ile; OFC 50th %ile. Family history: mother with 2p16.3/NRXN1 deletion has bipolar disorder; paternal family history of learning disabilities.
Cognitive Profile:
Mild intellectual disability
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Intellectual disability
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50809965
CNV End: 51087292
CNV Size: 277328
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient13
Clinical Profile:
Indication for study: developmental delay, epilepsy.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay and epilepsy
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50847379
CNV End: 51077228
CNV Size: 229850
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient14
Clinical Profile:
Indication for study: congenital heart defect. Neurological features: hypotonia, white matter injury. Behavioral features: N/A. Dysmorphic features: upslanting palpebral fissures, narrow nose. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: failure to thrive, hypoplastic right heart, atrial septal defect, absent plumonary valve, tricuspid stenosis, pulomnary atresia, grade II vesicoureteral reflux, chronic lung disease, hepatomegaly, small gall bladder, hyperbilirubinemia. Growth parameters: height <3rd %ile; weight 3rd %ile; OFC 3rd-10th %ile. Family history: N/A.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: MCA
Age: 0 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50819858
CNV End: 51077228
CNV Size: 257371
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient15
Clinical Profile:
Indication for study: epilepsy.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Epilepsy
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50918507
CNV End: 51050275
CNV Size: 131769
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient16
Clinical Profile:
Indication for study: developmental delay/intellectual disability, hypotonia, dysmorphic features. Neurological features: developmental delay, hypotonia. Behavioral features: none. Dysmorphic features: epicanthal folds, wide nasal bridge, minor hypertrichosis. Ophthalmologic features: none. Skeletal/joint features: mildly short 4th metacarpals. Other anomalies: none. Growth parameters: height 50th %ile; weight 25th-50th %ile; OFC <3rd %ile. Family history: non-contributory.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50847379
CNV End: 51043935
CNV Size: 196557
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient17
Clinical Profile:
Indication for study: developmental delay. Neurological features: global developmental delay, has 3-4-word sentences, hyperintense signal in splenium of corpus callosum. Behavioral features: none. Dysmorphic features: none. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: unilateral cryptorchidism. Growth parameters: height 10th-25th %ile; weight 25th-50th %ile; OFC 50th-75th %ile. Family history: three brothers (not tested) with speech delay.
Cognitive Profile:
Global developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50819858
CNV End: 51043935
CNV Size: 224078
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient18
Clinical Profile:
Indication for study: severe intellectual disability, pervasive developmental disorder (PDD). Neurological features: severe ID, childhood seizures. Behavioral features: pervasive developmental disorder (PDD), self-injurious. Dysmorphic features: large chin, narrow palate. Ophthalmologic features: congenital cataract, anisocoria. Skeletal/joint features: brachydactyly. Other anomalies: none. Growth parameters: height <3rd %ile; weight 10th %ile; OFC 25th-50th %ile. Family history: non-contributory.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Intellectual disability and PDD
Age: 56 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50584244
CNV End: 51169783
CNV Size: 585540
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient19
Clinical Profile:
Indication for study: developmental delay, ASD. Neurological features:.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: ASD and developmental delay
Age: 22 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50819858
CNV End: 50939915
CNV Size: 120058
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient20
Clinical Profile:
Indication for study: multiple congenital anomalies.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: MCA
Age: 0 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50819858
CNV End: 50969109
CNV Size: 149252
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient21
Clinical Profile:
Indication for study: developmental delay, dysmorphic features. Neurological features: developmental delay, absent speech, hearing loss ("glue ear"). Behavioral features: none. Dysmorphic features: round cranial vault, displaced hair whorl, deep-set eyes, midface hypoplasia. Ophthalmologic features: none. Skeletal/joint features: arm & leg rhizomelia, leg length discrepancy. Other anomalies: none. Growth parameters: height 50th-70th %ile; weight 50th-75th %ile; OFC N/A. Family history: father with 2p16.3/NRXN1 deletion has type 1 diabetes.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 21 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50939792
CNV End: 51029332
CNV Size: 89541
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient22
Clinical Profile:
Indication for study: developmental delay, ASD. Neurological features: global developmental delay, posturing, toe walking. Behavioral features: ASD. Dysmorphic features: none. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: none. Growth parameters: height 90th-97th %ile; weight 90th-97th %ile; OFC 90th-97th %ile. Family history: mother (not tested) with anxiety; maternal and paternal history of OCD.
Cognitive Profile:
Global developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: ASD and developmental delay
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50908567
CNV End: 51003857
CNV Size: 95291
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient23
Clinical Profile:
Indication for study: cystic hygroma, shortened upper limbs, fetal demise. Skeletal/joint features: limbs fixed in flexion. Other anomalies: large cystic hygroma; demise at 15 weeks gestation. Family history: father with 2p16.3/NRXN1 deletion is healthy.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: MCA and premature death
Age: Prenatal
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50908507
CNV End: 51003857
CNV Size: 95351
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient24
Clinical Profile:
Indication for study: hypotonia, encephalopathy.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Hypotonia and encephalopathy
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50754974
CNV End: 50999091
CNV Size: 244118
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient25
Clinical Profile:
Indication for study: multiple disabilities.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Multiple disabilities
Age: 9 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50548751
CNV End: 50999091
CNV Size: 450341
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient26
Clinical Profile:
Indication for study: developmental delay. Neurological features: developmental delay, hypotonia, myoclonic choreiform movements, normal EEG. Behavioral features: short attention span. Dysmorphic features: midface hypoplasia, depressed nasal bridge, low posterior hairline, hypo-/hyperpigmentation patterns. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: none. Growth parameters: height 10th-25th %ile; weight 5th %ile; OFC 50th %ile. Family history: mother (not tested) with learning disability.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 15 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50548751
CNV End: 50915770
CNV Size: 367020
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient27
Clinical Profile:
Indication for study: abnormal ultrasound.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Abnormal ultrasound
Age: Prenatal
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50599682
CNV End: 50840490
CNV Size: 240809
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient28a
Clinical Profile:
Indication for study: ASD. Neurological features: developmental delay, minimal speech, generalized seizure disorder. Behavioral features: Autism. Dysmorphic features: midface hypoplasia, underbite, widely spaced teeth, eversion of upper lip, prominent ears. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: cardiomegaly, resolved (twin-twin transfusion); allergies, anemia. Growth parameters: height 10th-25th %ile; weight 10th-25th %ile; OFC 25th-50th %ile. Family history: identical twin brother with 2p16.3/NRXN1 deletion has developmental delay and PDD; father (no deletion) with ADHD; paternal family history of seizures.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: ASD and developmental delay
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50422503
CNV End: 50784427
CNV Size: 361925
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient29
Clinical Profile:
Indication for study: dysmorphic features, ASD. Neurological features: global developmental delay, hypotonia, abnormal periventricular white matter, tortuous optic nerves. Behavioral features: Autism. Dysmorphic features: frontal hair upsweep, facial hemangioma, flat midface, wide nasal bridge, bulbous nose, small jaw, supernumerary incisor, posteriorly rotated ears, hypoplastic nails. Ophthalmologic features: esotropia. Skeletal/joint features: pes planus, tapered fingers. Other anomalies: failure to thrive in infancy, heart murmur, echo, laryngeal stenosis, inguinal hernias, asthma. Growth parameters: height 5th; weight 70th; OFC 45th. Family history: mother with 2p16.3/NRXN1 deletion is healthy, although has short attention span; maternal family history of learning disabilities; maternal and paternal family history of neuropsychiatric disease.
Cognitive Profile:
Global developmental delay; IQ 47
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: ASD and developmental delay
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50400005
CNV End: 50519720
CNV Size: 119716
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient30
Clinical Profile:
Indication for study: pervasive developmental disorder (PDD). Neurological features: none. Behavioral features: PDD, attention deficit disorder (ADD), aggression. Dysmorphic features: midface hypoplasia, shirt nose, micrognathia, high palate, smooth philtrum. Ophthalmologic features: blepharophimosis. Skeletal/joint features: brachydactyly, especially thumbs; pes planus. Other anomalies: generalized lymphedema, constipation. Growth parameters: height 50th-75th %ile; weight 75th-90th %ile; OFC 25th-50th %ile. Family history: mother (not tested) with anxiety, paternal cousin (not tested) with Asperger syndrome.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50599682
CNV End: 50639824
CNV Size: 40143
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient31
Clinical Profile:
Indication for study: encephalopathy.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Encephalopathy
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50539493
CNV End: 50570028
CNV Size: 30536
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient32
Clinical Profile:
Indication for study: multiple congenital anomalies. Neurological features: low average motor skills, hypotonia. Behavioral features: tantrums. Dysmorphic features: plagiocephaly, broad forehead, short nose, smooth philtrum, micrognathia, thin upper lip, earlobe creases. Ophthalmologic features: blepharophimosis. Skeletal/joint features: overlapping 3rd/4th toes. Other anomalies: failure to thrive, diastasis recti. Growth parameters: height 50th %ile; weight 97th %ile; OFC >97th %ile. Family history: mother (not tested) with learning disabilities; father (not tested) with ADHD and depression.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: MCA
Age: 15 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50621833
CNV End: 50745146
CNV Size: 123314
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient33a
Clinical Profile:
Indication for study: developmental delay. Family history: older brother (dabell_13_ASD/DD/ID_discovery_cases-patient33b) with 2p16.3/NRXN1 deletion and autism.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50190522
CNV End: 50856331
CNV Size: 665810
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient33b
Clinical Profile:
Indication for study: autism. Family history: younger sister (dabell_13_ASD/DD/ID_discovery_cases-patient33a) with 2p16.3 NRXN1 deletion and developmental delay.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Autism
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50190522
CNV End: 50856331
CNV Size: 665810
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient34a
Clinical Profile:
Indication for study: developmental delay, ASD. Neurological features: moderate ID, hypotonia, normal brain CT. Behavioral features: ASD, OCD, ADHD, anxiety, aggression, residential placement. Dysmorphic features: narrow palpebral fissures. Ophthalmologic features: none. Skeletal/joint features: joint hypermobility, pes planus. Other anomalies: None. Growth parameters: height 62nd %ile; weight 96th %ile; OFC >98th %ile. Family history: younger maternal half-sister (dabell_13_ASD/DD/ID_discovery_cases-patient34b) with 2p16.3/NRXN1 deletion and ADHD.
Cognitive Profile:
Moderate intellectual disability
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: ASD, ADHD, and intellectual disability
Age: 15 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50038168
CNV End: 50099069
CNV Size: 60902
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient34b
Clinical Profile:
Indication for study: ADHD. Neurological features: normal intelligence, normal brain MRI. Behavioral features: ADHD. Dysmorphic features: none. Ophthalmologic features: none. Skeletal/joint features: joint hypermobility. Other anomalies: none. Growth parameters: height 45th %ile; weight 36th %ile; OFC >98th %ile. Family history: older maternal half-sister (dabell_13_ASD/DD/ID_discovery_cases-patient34a) with 2p16.3/NRXN1 deletion and ASD.
Cognitive Profile:
No intellectual disability
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: ADHD
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50038168
CNV End: 50099069
CNV Size: 60902
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient35
Clinical Profile:
Indication for study: congenital heart disease.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Congenital heart disease
Age: 0 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50745086
CNV End: 50908567
CNV Size: 163482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient36
Clinical Profile:
Indication for study: developmental delay, short stature.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 51043875
CNV End: 51169783
CNV Size: 125909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient37
Clinical Profile:
Indication for study: developmental delay, epilepsy.
Cognitive Profile:
Developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay and epilepsy
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 51043875
CNV End: 51273452
CNV Size: 229578
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient4
Primary Diagnosis: ASD
Age: 23 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50908507
CNV End: 51594649
CNV Size: 686143
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: KNOP1P3, NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient5a
Clinical Profile:
Indication for study: developmental delay, epilepsy. Neurological features: profound ID (anoxic brain injury during surgery, nonverbal. Behavioral features: none. Dysmorphic features: high nasal bridge, bitemporal narrowing, bulbous nasal tip, macroglossia, high palate. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: sinus and atrioventricular node dysfunction, cutaneous 2-5 finger syndactyly, mild 2-3 toe syndactyly. Growth parameters: height 25th-50th %ile; weight 25th-50th %ile; OFC 75th-98th %ile. Family history: younger brother (dabell_13_ASD/DD/ID_discovery_cases-patient5b) with 2p16.3/NRXN1 deletion with developmental delay/intellectual disability and ADHD; younger sister with 2p16.3/NRXN1 deletion with dyslexia but normal development; maternal (deletion) and paternal history of ADHD; father (no deletion) with learning disabilites.
Cognitive Profile:
Severe ID
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay and epilepsy
Age: 23 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50915710
CNV End: 51474869
CNV Size: 559160
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient5b
Clinical Profile:
Indication for study: developmental delay, dysmorphic features. Neurological features: IQ 65, speech delay, bilateral ptosis. Behavioral features: ADHD. Dysmorphic features: bitemporal narrowing, high nasal bridge, bulbous nasal tip, pointed chin, high palate. Ophthalmologic features: strabismus (wears glasses). Skeletal/joint features: none. Other anomalies: sinus and atrioventricular node dysfunction, cutaneous 2-4 finger syndactyly, mild 2-3 toe syndactyly. Growth parameters: height 25th-50th %ile; weight 25th-50th %ile; OFC 50th-98th %ile. Family history: older brother (dabell_13_ASD/DD/ID_discovery_cases-patient5a) with 2p16.3/NRXN1 deletion and developmental delay and epilepsy as indication for study; younger sister with 2p16.3/NRXN1 deletion with dyslexia but normal development; maternal (deletion) and paternal history of ADHD; father (no deletion) with learning disabilites.
Cognitive Profile:
IQ 65
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability and ADHD
Age: 20 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50915710
CNV End: 51474869
CNV Size: 559160
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient6
Clinical Profile:
Indication for study: developmental delay, dysmorphic features, short stature. Neurological features: borderline ID, poor articulation. Behavioral features: pervasive developmental disorder-not otherwise specified (PDD-NOS). Dysmorphic features: mild midface hypoplasia, broad/short nails. Ophthalmologic features: mild myopia. Skeletal/joint features: hypoplastic phalanges, psuedoarthrosis of clavicle. Other anomalies: failure to thrive, allergies, mild eczema. Growth parameters: height <3rd %ile; weight 15th %ile; OFC 50th %ile. Family history: father with 2p16.3/NRXN1 deletion has learning disabilties, short stature, and knee problems.
Cognitive Profile:
Borderline intellectual disability
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: PDD-NOS
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50908507
CNV End: 51273452
CNV Size: 364946
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient7
Clinical Profile:
Indication for study: developmental delay. Neurological features: developmental delay, IQ in 80s. Behavioral features: OCD, ADHD, bipolar disorder. Dysmorphic features: none. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: cryptorchidism, asthma, allergies. Growth parameters: height 75th %ile; weight >97th %ile; OFC 75th %ile. Family history: father (not tested) with bipolar disorder, asthma, and alcoholism.
Cognitive Profile:
Developmental delay; IQ in 80s
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay, ADHD, and bipolar disorder
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50707423
CNV End: 51237542
CNV Size: 530120
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient8
Clinical Profile:
Indication for study: developmental delay (language and motor delay). Neurological features: developmental delay, moderate expressive speech delay. Behavioral features: adaptive behavior deficits. Dysmorphic features: N/A. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: early history of GERD. Growth parameters: height 25th %ile; weight <3rd %ile; OFC <3rd %ile. Family history: mother (not tested) with significant speech delay.
Cognitive Profile:
-
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50908507
CNV End: 51131053
CNV Size: 222547
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
dabell_13_ASD/DD/ID_discovery_cases-patient9
Clinical Profile:
Indication for study: developmental delay, dysmorphic features. Neurological features: mild developmental delay, speech impediment, hypotonia. Behavioral features: repetitive mannerisms (improved). Dysmorphic features: small face, midface hypoplasia, flat nasal bridge, low-set & prominent ears. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: cryptorchidism, Raynaud's phenomenon. Growth parameters: height 25th-50th %ile; weight 10th-25th %ile; OFC 10th-25th %ile. Family history: paternal family history of learning disabilities.
Cognitive Profile:
Mild developmental delay
Van Den Bossche MJ , et al. (2013)Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50819858
CNV End: 51131053
CNV Size: 311196
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
duong_12_ASD_discovery_cases-proband
Clinical Profile:
DSM-IV diagnosis of autism based on psychopathological assessment of proband; autistic features ascertained by family interview and by medical records verifying childhood onset. Proband also fulfilled criteria of West syndrome (infantile spasms, hypsarrythmia, mental retardation). Birth/neonatal history: third out of three children (second child stillborn); born at full-term by C-section due to maternal dysregulated diabetes during pregnancy; Apgar scores of 9 and 10; normal medical exams at 5 weeks and 5 months. Developmental milestones: hypotonia, developmental delay, and psychomotor delay noted at 7 months; delayed development also noted at 1 year of age; walking reported at 3 years of age; social interaction and language development entirely lacking. Language and communication: deficient language, odd communication (indirect social interaction by using mother's hand to decline examination. Motor: poorly coordinated movements. Behavioral/psychiatric characteristics: lack of eye contact, hypersalivation, finger-lips mannerism, repetitive body-rocking, stereotypic movements, poorly coordinated movements, lack of social relatedness. Epilepsy/seizures: infantile spasms characterized by extensions of lower extremities, abduction of upper extremities, felxion of elbows, extensions of neck, and abductions of bulbus oculi; proband developed epilepsy characterized by generalized tonic-clonic seizures that were successfully treated with anti-epileptics at 11 years of age; exacerbation of epilepsy at 21 years of age, seizures persisted with approximately one seizure/week despite treatment with anti-epileptics. EEG (7 months): hypsarrythmia. Brain MRI (11 yrs.): moderate atrophy; cyst deflecting right hippocampus. Hearing: perceptive hearing impairment of 30 dB. Dysmorphic features: high forehead, straight superciliary arches, retracted eyes, thin upper lip, high positioned ears, flat occiput, straight collum, strabismus, sequela of a fracture of the nose. Growth parameters: NA. Family history: non-consanguineous parents; somatic-healthy older brother meeting DSM-IV criteria of psychotic disorder not otherwise specified and diagnostic criteria of alcohol dependence; mother with insulin-dependent diabetes (diagnosed at 31 yrs.) and subtle, sub-diagnostic autistic triats (lack of social relatedness, impairment of non-verbal expression); deceased father diagnosed with paranoid schizophrenia; maternal uncle met criteria of bipolar disorder. Other genetic chracteristics: proband also has paternally-inherited splice-site mutation (c.2880-1G->A, IVS14-1G->A) in NRXN1 gene.
Cognitive Profile:
Mental retardation/intellectual disability, initially diagnosed at 1 year of age.
Duong L , et al. (2012)Primary Diagnosis: Autism
Age: 33 yrs.
Gender: M
Primary Disorder Inheritence: Possibly maternal (mother displays sub-diagnostic autistic traits)
Family Profile: Simplex for ASD, MR, and epilepsy; multiplex for psychiatric disorder (affected brother)
CNV Start: 50585753
CNV End: 51036374
CNV Size: 450622
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal (mother displays sub-diagnostic autistic traits)
CNV Inheritance: Maternal
Family Profile: Simplex for ASD, MR, and epilepsy; multiplex for psychiatric disorder (affected brother)
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
engchuan_15_ASD_discovery_cases-case13017_223
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50459235
CNV End: 50649904
CNV Size: 190670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
engchuan_15_ASD_discovery_cases-case13037_463
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50921934
CNV End: 51077100
CNV Size: 155167
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case13153_1703
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50909664
CNV End: 51141401
CNV Size: 231738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case13205_2303
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 49353427
CNV End: 49420887
CNV Size: 67461
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case13216_2383
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50887566
CNV End: 51133529
CNV Size: 245964
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case14024_490
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51036011
CNV End: 51161490
CNV Size: 125480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case14068_1180
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50413185
CNV End: 50597193
CNV Size: 184009
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1
engchuan_15_ASD_discovery_cases-case14072_1250
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 48808575
CNV End: 48850993
CNV Size: 42419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case14144_2420
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51076772
CNV End: 51145209
CNV Size: 68438
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case16074_1571042001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 49957256
CNV End: 50326908
CNV Size: 369653
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case17027_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50995969
CNV End: 51066958
CNV Size: 70990
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case17034_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52179922
CNV End: 52355628
CNV Size: 175707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case18121_302
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50718333
CNV End: 50831607
CNV Size: 113275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20071_1335001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52179922
CNV End: 52355628
CNV Size: 175707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case21052_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50831607
CNV End: 50874445
CNV Size: 42839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case2279_102
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 48867105
CNV End: 48923276
CNV Size: 56172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3320_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 47928345
CNV End: 47970829
CNV Size: 42485
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3394_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51076772
CNV End: 51108720
CNV Size: 31949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3394_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51359255
CNV End: 51399041
CNV Size: 39787
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3473_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
engchuan_15_ASD_discovery_cases-case3485_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50645969
CNV End: 50749347
CNV Size: 103379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
engchuan_15_ASD_discovery_cases-case3513_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52540303
CNV End: 53040270
CNV Size: 499968
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FTH1P6, MIR4431
engchuan_15_ASD_discovery_cases-case4193_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 49367164
CNV End: 49512223
CNV Size: 145060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case4504_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
engchuan_15_ASD_discovery_cases-case5072_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50831607
CNV End: 50874445
CNV Size: 42839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case5201_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52070754
CNV End: 52170379
CNV Size: 99626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case5413_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1
engchuan_15_ASD_discovery_cases-case6125_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50741670
CNV End: 50805721
CNV Size: 64052
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case6197_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50741670
CNV End: 50820220
CNV Size: 78551
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case6278_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 49433197
CNV End: 49516922
CNV Size: 83726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case6296_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51673698
CNV End: 51713901
CNV Size: 40204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case8502_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52602320
CNV End: 52666027
CNV Size: 63708
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
fitzgerald_14_ASD/DD/ID_discovery_cases-case000023
Clinical Profile:
Clinical profile N/A; CNV from Supplementary Table S29
Cognitive Profile:
N/A
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: N/A
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 47805906
CNV End: 47820612
CNV Size: 14707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MSH6, FBXO11
fan_19_ASD_discovery_cases-caseASD287
Primary Diagnosis: ASD
Age: 1 yr. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 50830822
CNV End: 51205903
CNV Size: 375082
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
feliciano_19_ASD_discovery_cases-caseSP0001116
Clinical Profile:
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50619906
CNV End: 50656389
CNV Size: 36484
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
feliciano_19_ASD_discovery_cases-caseSP0001151
Clinical Profile:
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50619906
CNV End: 50656389
CNV Size: 36484
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
gai_11_ASD_discovery_cases-AU1091304
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52151396
CNV End: 52225047
CNV Size: 73652
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1091306
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52151396
CNV End: 52237202
CNV Size: 85807
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1274302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52426621
CNV End: 52521448
CNV Size: 94828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1419302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51022554
CNV End: 51101161
CNV Size: 78608
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1419303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51022554
CNV End: 51101161
CNV Size: 78608
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1495303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50882166
CNV End: 51255180
CNV Size: 373015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1495304
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50882166
CNV End: 51255180
CNV Size: 373015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1679302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52426621
CNV End: 52510098
CNV Size: 83478
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1679303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52426621
CNV End: 52513378
CNV Size: 86758
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1764302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 50470517
CNV End: 50522264
CNV Size: 51748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1848302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51033960
CNV End: 51051888
CNV Size: 17929
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_replication_cases-AU019604
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 52447487
CNV End: 52506530
CNV Size: 59044
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_replication_cases-AU041105
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51033960
CNV End: 51275286
CNV Size: 241327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_replication_cases-AU041106
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51033960
CNV End: 51275286
CNV Size: 241327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_replication_cases-AU054203
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 51134021
CNV End: 51184661
CNV Size: 50641
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
girirajan_13a_ASD_discovery_cases-12232.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 50915511
CNV End: 50999232
CNV Size: 83722
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-13580.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 51018423
CNV End: 51081029
CNV Size: 62607
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-13609.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 51009662
CNV End: 51101453
CNV Size: 91792
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-13962.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 50565279
CNV End: 51024560
CNV Size: 459282
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1
girirajan_13a_ASD_discovery_cases-14443.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 50921170
CNV End: 51024560
CNV Size: 103391
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-AU1495303
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 50801771
CNV End: 51175460
CNV Size: 373690
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-AU2681301
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)