Copy Number Variants / 13q32.3

13q32.3

Case population data
Control population data
Type
Deletion
Average Length
1768398
Range
100776268-100782092
Associated Human Genes
PCCA
Associated Animal Models
-
Autism Reports
3
Populations
9 (3 case / 6 control)
Individuals
9 (8 case / 1 control)
Summary

Summary statement in development

Reports related to 13q32.3 (3 Reports)
# Type Title Author, Year
1 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)
2 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
3 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
Show all Case Details Show all Cohort Details

13q32.3

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: 80
Female: 20
Unknown: -
CNV Size: 5824

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
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&

13q32.3

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: 49450

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q32.3

Description:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 15578118

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH (n=45,744 from Signature Genomic Labs)

Validation Method:

FISH

Platform: SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

sanders_11_ASD_discovery_cases-11367.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119

Sanders SJ , et al. (2011)
Primary Diagnosis: Aspergers

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 99928099
CNV End: 99929456
CNV Size: 1357
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11897.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 99664834
CNV End: 99665240
CNV Size: 406
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12865.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 100221691
CNV End: 100226566
CNV Size: 4875
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13035.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 98769992
CNV End: 98774175
CNV Size: 4183
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13266.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 100124014
CNV End: 100129838
CNV Size: 5824
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3200_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: 100620237
CNV End: 100650579
CNV Size: 30342
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: COX5BP6, TMTC4

engchuan_15_ASD_discovery_cases-case13133_1503

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: 100026497
CNV End: 100075947
CNV Size: 49450
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NDUFA12P1, ASNSP3

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865

Clinical Profile:

Database: Signature. Indication for study: Fetal Hydrops, IUFD

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 98861364
CNV End: 114326261
CNV Size: 15578118
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL7L1P12, RNU6-83P, DOCK9-AS2, RPS6P23, GAPDHP22, UBAC2-AS1, RN7SKP9, H2AFZP3, GPR18, MIR623, HMGB3P4, CCR12P, LINC01232, LINC01039, CFL1P8, MIR4306, CLYBL-AS2, CLYBL-AS1, ZIC5, ZIC2, LINC00554, NDUFA12P1, ASNSP3, RPL15P18, RPS26P47, COX5BP6, ARF4P3, RNU1-24P, HMGB3P7, MIR2681, LIPT1P1, RNY1P2, MIR4705, RPL39P29, FGF14-AS1, FGF14-AS2, LINC00555, METTL21C, TEX30, LINC01309, ATP6V1G1P7, RPL7P45, RNA5SP38, LINC00460, RPL35P9, ATP5G1P5, PPIAP24, SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, GPR183, LINC00449, TM9SF2, PCCA-AS1, LINC00411, CCDC168, LINC00283, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA-AS1, DAOA, LINC00343, EFNB2, LINC00551, LINC00443, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, DOCK9, UBAC2, PCCA, GGACT, NALCN-AS1, NALCN, FGF14-IT1, TPP2, METTL21EP, ARGLU1, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, TMTC4, MYO16
Show all Control Details Show all Cohort Details

13q32.3

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 80
Female: 20
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: -

13q32.3

Description:

Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 241026

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q32.3

Description:

Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.

Diagnosis:

Control

Nguyen LS , et al. (2013)
Cohort Size: 20474

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

N/A

Validation Method:

N/A

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Control Details Show all Cohort Details

engchuan_15_ASD_discovery_controls-controlHABC_900975_900975

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 99053573
CNV End: 99294599
CNV Size: 241026
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DOCK9-AS2, RPS6P23, GAPDHP22, UBAC2-AS1, RN7SKP9, H2AFZP3, GPR18, GPR183, DOCK9, UBAC2
Genes associated with 13q32.3(0 Models)
PCCA -  /  9 Syndromic
Score
S
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