10q23.32CNV Type: Deletion
Largest CNV size: 14941 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
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.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
prasad_12_ASD_discovery_cases
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).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
8575
1
0
1
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
108473
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
14941
4
0
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
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)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
35781
0
1
1
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
335043
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
8575
0
0
0
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
108473
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
9774
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
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
prasad_12_ASD_discovery_cases-case154265L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93193289
93201863
8575
Unknown
Deletion
No
salyakina_11_ASD_discovery_cases-37425_001
M
Asperger
ADHD symptoms. Language delay, regression of motor skills at 42 months for a duration of 62 months. Macrocephaly.
91872199
91980672
108474
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-37425_100
M
Asperger
ADHD symptoms.
91872199
91980672
108474
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
91440621
91450395
9775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
91440621
91450395
9775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
92062436
92077377
14942
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11723.p1
6.9
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
91440621
91450395
9775
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-controlB810425_0057061028
N/A
N/A
Control
No previous psychiatric history
91712426
91748207
35782
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1541
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
93600302
93935344
335043
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
91440621
91450395
9775
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
91440621
91450395
9775
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
prasad_12_ASD_discovery_cases-case154265L
Unknown
Unknown
Unknown
HECTD2,LOC100188947
salyakina_11_ASD_discovery_cases-37425_001
qPCR
Maternal
Simplex
Not segregated
FGFBP3,BTAF1
salyakina_11_ASD_discovery_cases-37425_100
qPCR
Maternal
Simplex
Not segregated
FGFBP3,BTAF1
sanders_11_ASD_discovery_cases-11004.p1
Maternal
Simplex (quad-proband matched)
Segregated
HECTD2
sanders_11_ASD_discovery_cases-11079.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HECTD2
sanders_11_ASD_discovery_cases-11450.p1
Paternal
Simplex (quad-proband matched)
Segregated
CPEB3
sanders_11_ASD_discovery_cases-11723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HECTD2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB810425_0057061028
Unknown
kanduri_15_ASD_discovery_controls-control_split1541
Unknown
BTAF1,CPEB3,FGFBP3,TNKS2
sanders_11_ASD_discovery_controls-11471.s1
Maternal
Simplex (quad)
NA
HECTD2
sanders_11_ASD_discovery_controls-11723.s1
Paternal
Simplex (quad)
NA
HECTD2
No Animal Model Data Available