7q31.32CNV Type: Deletion
Largest CNV size: 900000 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
7308
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
900000
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1515817
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
428801
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
775790
0
4
4
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
669710
0
1
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
67800
1
0
1
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
25618
2
0
2
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
897000
2
0
2
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
16000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
900000
0
0
0
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
76496
2
0
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
1600000
1
0
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)
67800
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.
44031
3
0
3
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
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
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
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
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
celestino-soper_11_ASD_discovery_cases-11208
NA
F
ASD
NA
NA
123629851
123637159
7309
GRCh38
Deletion
No
christian_08_ASD_discovery_cases-AU002905
NA
F
ASD
NA
NA
121570599
122512372
941774
GRCh38
Deletion
Yes
gai_11_ASD_replication_cases-AU002905
Autism
120989458
122505274
1515817
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11026.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
122082633
122511434
428802
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002177
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122563002
123338792
775791
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002582
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122651517
123044665
393149
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004251
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122609585
123346205
736621
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004371
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122720725
123294193
573469
GRCh38
Duplication
Yes
leite_22_DD/ID_discovery_cases-case003
17 yrs.
M
Developmental delay
Global developmental delay
122726487
123396196
669710
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case55449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
121521958
121589757
67800
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
123170070
123195688
25619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
123172643
123174692
2050
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR061-A5-HI0128
NA
ASD
NA
NA
122308995
123056995
748001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR061-A6-HI0130
NA
ASD
NA
NA
121609995
122506995
897001
GRCh38
Deletion
Yes
zhou_19_ASD_discovery_cases-caseAU083003
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
123113484
123129531
16048
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-controlB683658_1007841022
N/A
N/A
Control
No previous psychiatric history
122094880
122162014
67135
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900480_900480
N/A
N/A
Control
No previous psychiatric history
122085518
122162014
76497
GRCh38
Deletion
No
leppa_16_ASD_discovery_controls-AU002904
N/A
F
Control
Unaffected sibling
121561946
123121946
1560001
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
123170070
123196699
26630
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
122931499
122975530
44032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
123172643
123174692
2050
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11208
Unknown
Simplex
NA
ASB15
christian_08_ASD_discovery_cases-AU002905
FISH, microsatellite
inherited
Multiplex
NA
RN7SKP277,PNPT1P2,RNU7-154P,AASS,FEZF1,FEZF1-AS1,PTPRZ1,CADPS2
gai_11_ASD_replication_cases-AU002905
Inherited
PTPRZ1, AASS, FEZF1, CADPS2, RNF133, RNF148, TAS2R16
girirajan_13a_ASD_discovery_cases-11026.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
AASS,FEZF1,FEZF1-AS1,CADPS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002177
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS26P31,RNF133,RNF148,TAS2R16,LYPLA1P1,SLC13A1,CADPS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002582
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS26P31,RNF133,RNF148,TAS2R16,CADPS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004251
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS26P31,RNF133,RNF148,TAS2R16,LYPLA1P1,SLC13A1,CADPS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004371
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TAS2R16,LYPLA1P1,SLC13A1,CADPS2
leite_22_DD/ID_discovery_cases-case003
Paternal
TAS2R16,CADPS2,LYPLA1P1,SLC13A1
prasad_12_ASD_discovery_cases-case55449
Unknown
Unknown
Unknown
AASS
sanders_11_ASD_discovery_cases-11444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC13A1
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC13A1
szatmari_07_ASD_discovery_cases-NAAR061-A5-HI0128
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS26P31,RNF133,RNF148,TAS2R16,FEZF1,FEZF1-AS1,CADPS2
szatmari_07_ASD_discovery_cases-NAAR061-A6-HI0130
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SKP277,PNPT1P2,RNU7-154P,AASS,FEZF1,FEZF1-AS1,PTPRZ1,CADPS2
zhou_19_ASD_discovery_cases-caseAU083003
qPCR
Maternal
SLC13A1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB683658_1007841022
Unknown
AASS
engchuan_15_ASD_discovery_controls-controlHABC_900480_900480
Unknown
AASS
leppa_16_ASD_discovery_controls-AU002904
Maternal
Multiplex
RN7SKP277,PNPT1P2,RNU7-154P,RPS26P31,RNF133,RNF148,TAS2R16,AASS,FEZF1,FEZF1-AS1,SLC13A1,PTPRZ1,CADPS2
sanders_11_ASD_discovery_controls-11444.s1
Maternal
Simplex (quad)
NA
SLC13A1
sanders_11_ASD_discovery_controls-12478.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Maternal
Simplex (quad)
NA
SLC13A1
No Animal Model Data Available