22q11.2
Type
DuplicationAverage Length
2288384Range
21031117-21651381Associated Human Genes
-Associated Mouse Models
-Autism Reports
7Populations
7 (7 case / 0 control)Individuals
11 (11 case / 0 control)Summary
Duplications within the DiGeorge Syndrome region (22q11.21) were identified.
Reports related to 22q11.2 (7 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Minor | Autistic disorder and 22q11.2 duplication. | Mukaddes NM and Herguner S (2007) |
| 2 | Major | Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica... | Cai G , et al. (2008) |
| 3 | Minor | Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. | Ramelli GP , et al. (2008) |
| 4 | Major | Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. | Schaefer GB , et al. (2010) |
| 5 | Major | Evidence for involvement of GNB1L in autism. | Chen YZ , et al. (2011) |
| 6 | Major | 22q11 deletion syndrome and multiple complex developmental disorder: a case report. | Scandurra V , et al. (2013) |
| 7 | 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) |
22q11.2
Description:
Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
Diagnosis:
270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
Cai G , et al. (2008)Cohort Size: 279
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 3000000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
MLPA
Validation Method:
Direct DNA sequencing qPCR, FISH
Platform: ABI 3130 genetic analyzer (Applied Biosystem)
Software: GeneMarker
Algorithm: -
Geographical Ancestry: 205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
22q11.2
Description:
Unrelated ASD cases from multiplex families ( 2 children with ASD); many of these families have been previously used in genetics studies (2 linkage studies, 1 rare single gene mutation study).
Diagnosis:
Diagnosis of autism or ASD based on meeting DSM-IV criteria following assessment by trained clinicians using ADI-R & ADOS-G
Chen YZ , et al. (2011)Cohort Size: 513
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 3000000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
qPCR
Validation Method:
aCGH (custom Agilent 400K oligo array)
Platform: Taqman copy number assay/Applied Biosystems 7500 Real-Time PCR system
Software: Copy Caller Software V1.0 (Applied Biosystems)
Algorithm: -
Geographical Ancestry: 80% White, 10% mixed-race, 10% US minorities
22q11.2
Cohort Size: 1
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: N/A
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
FISH
Validation Method:
-
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Middle Eastern
22q11.2
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: N/A
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, karyotyping
Validation Method:
FISH
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France
22q11.2
Cohort Size: 1
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: N/A
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
FISH
Validation Method:
-
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: European
22q11.2
Description:
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
Diagnosis:
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
Schaefer GB , et al. (2010)Cohort Size: 68
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: NA
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
FISH
Platform: Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
Software: GenePix Pro 6.0, SpectralWare CGH analysis software
Algorithm: -
Geographical Ancestry: -
22q11.2
Description:
Caucasian male patient born to healthy unrelated patients with 22q11.2 deletion
Diagnosis:
ASD and psychotic disorders (anxiety disorder, separation anxiety disorder, ADHD-like features). Diagnosis of ASD based on ADOS module 4 and ADI-R evaluation. Other diagnostic tools used in assessing case include WISC-III, VABS-II, CBCL/4-18, CPRS-R:L, and K-SADA-PL.
Scandurra V , et al. (2013)Cohort Size: 1
Age Min: 180
Age Max: 180
Average: 180
Male: 100
Female: -
Unknown: -
CNV Size: 1500000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
MLPA
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
cai_08_ASD_discovery_cases-AU001804
Clinical Profile:
Non-verbal language 10, Repetitive behavior 6, Onset 5, Raven 131, epicanthal folds, prominent ears, retrognathia, ligamentous laxity
Cognitive Profile:
NA
Cai G , et al. (2008)Primary Diagnosis: Autism
Age: 4.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 3000000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
cai_08_ASD_discovery_cases-AU004903
Clinical Profile:
Non-verbal language 13, Repetitive behavior 6, Onset 4, Raven 83, epicanthal folds, midface hypoplasia, abnormal pigmentation
Cognitive Profile:
NA
Cai G , et al. (2008)Primary Diagnosis: Autism
Age: 5.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 3000000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
chen_11_ASD_discovery_cases-caseAU142-03
Clinical Profile:
Family history: monozygotic twin sister has paternally-inherited 22q11.2 duplication & diagnosis of ASD; father showed decreased social motivation and limited range of interests/flexibility as assessed by Broader Phenotype Autism Symptom Scale (BPASS).
Cognitive Profile:
Low IQ (full-scale IQ 49)
Chen YZ , et al. (2011)Primary Diagnosis: Autism
Age: -
Gender: F
Primary Disorder Inheritence: Possibly paternal
Family Profile: Multiplex
CNV Start: 17000000 (approximate)
CNV End: 20000000 (approximate)
CNV Size: 3000000
Validation Description: aCGH (custom Agilent 400K oligo array)
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: Approximate gene content: USP18, DGCR6, PRODH, DGCR2, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, ARVCF, C22orf25, DGCR8, TRMT2A, RANBP1, ZDHHC8, LOC388849, RTN4R, DGCR6L, TMEM191B, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, P2RX6, SLC7A4
chen_11_ASD_discovery_cases-caseM2017-03
Clinical Profile:
Family history: sister, who has diagnosis of autism/ASD, lacks 22q11.2 duplication
Cognitive Profile:
-
Chen YZ , et al. (2011)Primary Diagnosis: Autism
Age: -
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 17000000 (approximate)
CNV End: 20000000 (approximate)
CNV Size: 3000000
Validation Description: aCGH (custom Agilent 400K oligo array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: Approximate gene content: USP18, DGCR6, PRODH, DGCR2, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, ARVCF, C22orf25, DGCR8, TRMT2A, RANBP1, ZDHHC8, LOC388849, RTN4R, DGCR6L, TMEM191B, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, P2RX6, SLC7A4
davis_09_ASD_discovery_cases-AU1437302
Clinical Profile:
Diagnosis: autism. Syndromic autism features: cleft lip and palate
Cognitive Profile:
-
Davis LK , et al. (2009)Primary Diagnosis: Syndromic ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 21031117
CNV End: 21651381
CNV Size: 230304
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ZNF280B, ZNF280A, PRAME, GGTLC2
mukaddes_07_ASD_discovery_cases-patient1
Clinical Profile:
Impaired social skills, stereotypical behaviors, delayed motor and speech, facial dysmorphism
Cognitive Profile:
NA
Mukaddes NM and Herguner S (2007)Primary Diagnosis: ASD
Age: 9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
munnich_19_ASD_discovery_cases-case17
Clinical Profile:
Case diagnosed with ASD based on DSM criteria. CNV detected by karyotype and FISH analysis (probes RP11-316L10 and RP11-1107K6, location 22q11.2, locusTBX1).
Cognitive Profile:
-
Munnich A , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh37
Gene Content: -
ramelli_08_ASD_discovery_cases-patient1
Clinical Profile:
Developmental delay, no verbal communication skills, repetitive behaviors, severe lack of social interactions
Cognitive Profile:
NA
Ramelli GP , et al. (2008)Primary Diagnosis: ASD
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
scandurra_13_ASD_discovery_cases-case1
Clinical Profile:
Assessment results using ADOS-module 4: communication score of 4 (> cut-off autism); social interaction score of 5 (>ASD); total (communication and social interaction) score of 9 (>ASD); imagination score of 1; stereotyped behavior and restricted interests score of 2. Assessment results using ADI-R: reciprocal social interaction score of 14 (>ASD); communication score of 13 (>ASD); restricted, repetitive, and stereotyped patterns of behaviors score of 10 (>ASD); abnormality of development evident at or before 36 months score of 3 (>ASD). K-SADS-PL assessment: anxiety disorders; Separation Anxiety Disorder (SAD). CBCL/4-18 assessment: withdrawn score of 88-C (>98th %ile); somatic complaints score of 91-C (>98th %ile); anxious/depressed score of 81-C (>98th %ile); social problems score of 87-C (>98th %ile); thought problems score of 82-C (>98th %ile); attention problems score of 89C (>98th %ile); aggressive behavior score of 68-B (97th %ile). CPRS-R:L assessment: oppositional score of 78; cognitive/inattentive score of 69; hyperactivity score of 76; anxious/shy score of 97; perfectionism score of 62; social problems score of 100; psychosomatic score of 99; Conners' ADHD Index score of 79; I:CGI Restlessness-Impulsive score of 71; J-CGI-Emotional Lability score of 83; K-CGI Total score of 76; L:DSM-IV Inattentive score of 76; M-DSM-IV Hyperactive-Impulsive score of 76; DSM-IV total score of 79. Developmental milestones: slightly delayed psychomotor development (sitting at 11 months, walking at 18 months); first words at 12 months, complete phrases at 24 months; pointing at objects present at 30 months (other communicative gestures were poor); developed literal comprehension of language with difficulties understanding metaphorical sentences. Motor and musculoskeletal evaluation: mildly reduced muscle tone, reported fatigue, normal muscle trophism; patient able to walk and run; global clumsiness; poor fine motor skills; hyperlaxity of ligaments, flat feet. Behavioral/psychiatric evaluation: extensive neuropsychiatric evaluation (see above); poor interaction with peers, difficulties in modulating social interaction with peers (excessive intrusiveness or avoidance); development of selective interest in limited range of objects; excessive anxiety concerning separation from parents; occassional aggressive behavior toward family members; ADHD-like features of hyperactivity, impulsivity, and inattention. EEG: normal. Brain imaging: brain MRI within normal limits. Ohter features: immunological profile showed mild IgG-IgM reduction, mild lynphopenia, and hypo-gamma-globulinemia. Dysmorphic features: mild facial dysmorphisms (long face, ocular hypertelorism, small ears, prominent nose with bulbous tip). Family history: born to healthy unrelated parents; healthy younger sister.
Cognitive Profile:
WISC-III assessment results: full scale IQ of 77, verbal IQ of 90, performance IQ of 69; verbal comprehension score of 93; perceptual organization score of 72; freedom from distractibility score of 78; processing speed score of 85. VABS-II assessment results: adaptive behavior composite score of 61 (communication score of 59, daily living skills score of 63, socialization score of 64, motor skills score of 75, maladaptive behavior scale index was clinically significant)
Scandurra V , et al. (2013)Primary Diagnosis: ASD and psychotic disorders
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1500000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
schaefer_10_ASD_discovery_cases-case1
Clinical Profile:
Simple (non-syndromic autism). Behavior problems. No dysmorphisms.
Cognitive Profile:
Developmental delay
Schaefer GB , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
schaefer_10_ASD_discovery_cases-case10
Clinical Profile:
Complex (syndromic) autism. Hypotonia. Microcephaly, macrostomia, esotropia.
Cognitive Profile:
Developmental delay
Schaefer GB , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
No control populations reported.
No control individuals reported.