3q13.32CNV Type: Duplication
Largest CNV size: 88870 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
70270
2
0
2
lionel_13_SCZ_discovery_cases
Schizophrenia patients studied by the International Schizophrenia Consortium (previously described in Nature, 2008).
3391
Schizophrenia
NA
NA
87536
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
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
N/A
N/A
72741
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
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)
Mean, 9.1 yrs.
86.1% Male
88870
0
5
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
54854
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
88281
1
2
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
lionel_13_SCZ_discovery_cases
NA
Array SNP
Affymetrix 6.0
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kanduri_15_ASD_discovery_cases-case2953
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
117731061
117801330
70270
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2954
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
117731061
117801330
70270
Unknown
Deletion
No
lionel_13_SCZ_discovery_cases-proband6
26 yrs.
M
Schizophrenia
Proband recruited into International Schizophrenia Consortium (ISC) study at 26 years of age (previously reported in a Nature 2008 paper). Developmental milestones: normal early milestones. Behavioral/psychiatric evaluation: first onset of psychiatric symptoms started at age of 21 years with behavioral changes; examined by psychiatrist at age of 22 years after reportigng that he heard voices laughing at him and people looking at him; proband believed that he was being poisoned; subsequently treated with long-acting injectable antipsychotic medication for three years prior to recruitment into ISC study; proband remained in chronic condition, with similar delusions, anhedonia (loss of interest in pleasurbale activities), and severe lethargy. Family history: unaffected mother; maternal grandmother reported to have had schizophrenia (DNA not available for testing).
119014263
119101798
87536
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1427-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
119024001
119083007
59007
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-129a1
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
119010267
119083007
72741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11117.p1
9.3
F
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
119036472
119098548
62077
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
119015424
119104294
88871
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12240.p1
8.9
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
119010267
119098548
88282
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
119024001
119098548
74548
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
119024001
119104294
80294
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kanduri_15_ASD_discovery_controls-control_split1764
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
118747001
118801854
54854
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
119010267
119098548
88282
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
119184253
119187595
3343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
119024001
119104294
80294
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_cases-case2953
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, TUSC7(dist=1295174),IGSF11(dist=818149)
kanduri_15_ASD_discovery_cases-case2954
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, TUSC7(dist=1295174),IGSF11(dist=818149)
lionel_13_SCZ_discovery_cases-proband6
Unknown
Simplex
Unknown
IGSF11
sajan_13_ACC/CBLH/PMG_discovery_cases-case1427-0
Not tested by qPCR
Unknown
Unknown
Unknown
IGSF11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-129a1
Not tested by qPCR
Unknown
Unknown
Unknown
IGSF11
sanders_11_ASD_discovery_cases-11117.p1
Maternal
Simplex (quad-proband matched)
Segregated
IGSF11
sanders_11_ASD_discovery_cases-11161.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGSF11
sanders_11_ASD_discovery_cases-12240.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGSF11
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGSF11
sanders_11_ASD_discovery_cases-12997.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGSF11
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1764
Unknown
IGSF11
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
IGSF11
sanders_11_ASD_discovery_controls-11775.s1
Unknown
Simplex (quad)
NA
UPK1B
sanders_11_ASD_discovery_controls-12997.s1
Maternal
Simplex (quad)
NA
IGSF11
No Animal Model Data Available