7q32.3CNV Type: Deletion
Largest CNV size: 5598 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
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
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
139775
3
0
3
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
308967
0
1
1
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
247488
1
0
1
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
111960
1
2
3
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
5598
4
0
4
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
646000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
79000
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
897
1
0
1
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
644044
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
7621
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
91304
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)
15521
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
54127
1
1
2
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case1-0367-003
N/A
M
ASD
Case from MSSNG cohort
131495988
131496703
716
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2123301
N/A
M
ASD
Case from MSSNG cohort
132145828
132285602
139775
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3853302
N/A
M
ASD
Case from MSSNG cohort
131495988
131496703
716
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3395_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131917505
132226472
308968
GRCh38
Duplication
No
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
131123687
131371175
247488
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59144
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
131972774
131988294
15521
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case69180
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
131704792
131719045
14254
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case88032
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
132118051
132230010
111960
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11766.p1
6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
132089898
132095496
5599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
132089898
132095496
5599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
132089898
132095496
5599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
132089898
132095496
5599
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseSES2
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
131745360
132391573
646214
GRCh38
Duplication
No
zhou_19_ASD_discovery_cases-caseAU048603
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
132145069
132223691
78623
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU049703
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
132159423
132198686
39264
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC07271
N/A
M
Control
Control from SSC cohort
132051245
132052142
898
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
N/A
N/A
Control
No previous psychiatric history
131750610
132394654
644045
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
N/A
N/A
Control
No previous psychiatric history
131331332
131547749
216418
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11519.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132377674
132385295
7622
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11519.s1
NA
F
Control
NA
NA
132365626
132456929
91304
GRCh38
Duplication
No
prasad_12_ASD_discovery_controls-control2
NA
NA
Control
NA
131972774
131988294
15521
Unknown
Duplication
No
prasad_12_ASD_discovery_controls-control3
NA
NA
Control
NA
131972774
131988294
15521
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
132400020
132454147
54128
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
132089898
132095496
5599
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case1-0367-003
No validation step reported
Maternal
MKLN1
brandler_18_ASD_replication_cases-caseAU2123301
No validation step reported
Maternal
PLXNA4
brandler_18_ASD_replication_cases-caseAU3853302
No validation step reported
Paternal
MKLN1
engchuan_15_ASD_discovery_cases-case3395_4
Unknown
PLXNA4
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59144
qPCR
Maternal
Multiplex
Not segregated (duplication present in unaffected sibling)
PLXNA4
prasad_12_ASD_discovery_cases-case69180
qPCR
Paternal
Multiplex
Segregated
PLXNA4
prasad_12_ASD_discovery_cases-case88032
Unknown
Simplex
Unknown
CHCHD3
sanders_11_ASD_discovery_cases-11766.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12233.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12637.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13041.p1
Both parents
Simplex (quad-proband matched)
Segregated
soueid_16_ASD_discovery_cases-caseSES2
Maternal
Simplex
NDUFB9P2,PLXNA4
zhou_19_ASD_discovery_cases-caseAU048603
qPCR
Unknown
PLXNA4
zhou_19_ASD_discovery_cases-caseAU049703
qPCR
De novo
PLXNA4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07271
Not available
Unknown
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
Unknown
NDUFB9P2,PLXNA4
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
Unknown
PODXL,MKLN1
krumm_15_ASD_discovery_controls-control11519.s1
Illumina 1M
Paternal
PLXNA4
levy_11_ASD_discovery_controls-11519.s1
Paternal
Simplex
NA
PLXNA4
prasad_12_ASD_discovery_controls-control2
Unknown
PLXNA4
prasad_12_ASD_discovery_controls-control3
Unknown
PLXNA4
sanders_11_ASD_discovery_controls-11519.s1
Paternal
Simplex (quad)
NA
PLXNA4
sanders_11_ASD_discovery_controls-12060.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available