9q31.2CNV Type: Deletion-Duplication
Largest CNV size: 391000 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
5492
1
0
1
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
92989
2
1
3
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
39806
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
652850
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
391000
0
1
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
21036
3
0
3
weiss_17_ASD/ID_discovery_cases
Two patients presenting with de novo 9q31.2 deletions involving the ZNF462 gene
2
One case was diagnosed with ASD, intellectual disability, attention deficit order, and obsessive-compulsive disorder, whereas the other presented with hypotonia, hypoplasia of the corpus callosum, and dysmorphic features
Range, 5-12 yrs.
Female
1897978
2
0
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
49552
0
1
1
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
255508
1
2
3
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
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.
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
49552
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
weiss_17_ASD/ID_discovery_cases
1 Norwegian, 1 Swedish
aCGH
Agilent SurePrint G3 4x180K, Oxford Gene Technology CytoSure 180K
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
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_discovery_cases-caseSSC02971
N/A
M
ASD
Case from SSC_phase1 cohort
106932248
106937740
5493
GRCh38
Deletion
Yes
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)
106370165
106436234
66070
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4197_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
105444916
105537905
92990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8646_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
106375740
106413294
37555
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case576-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
106508451
106548257
39807
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003938
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
106998471
107651321
652851
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0045-003
NA
M
ASD
NA
NA
109604165
109995165
391001
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
106835890
106856926
21037
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
106076883
106094809
17927
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
107619836
107622098
2263
GRCh38
Deletion
No
weiss_17_ASD/ID_discovery_cases-pedigree4subjectII1
5 yrs.
F
Hypotonia
Birth/neonatal history: born full term; birth weight 3.5 kg (25th %ile), head circumference at birth 33 cm (25th %ile); poor weight gain in first few weeks that later resolved. Developmental milestones: walked at 15 months; normal speech development. Motor and musculoskeletal evaluation: hypotonia. Brain imaging: hypoplasia of the corpus callosum noted on brain MRI. Dysmorphic features: bilateral ptosis, left strabismus, epicanthal folds, arched eyebrows, short philtrum, downslanting palpebral fissures, marked cupid bow/wide philtrum. Growth parameters: height of 118 cm (97th %ile), head circumference 49 cm (10th %ile). Family history: first child of unrelated Norwegian parents.
106178482
107799116
1620635
GRCh38
Deletion
No
weiss_17_ASD/ID_discovery_cases-pedigree5subjectII1
12 yrs.
F
ASD, ID, ADD, and OCD
Birth/neonatal history: born full term; birth weight 2.9 kg (10th %ile for 41 weeks), head circumference at birth 33 cm (3rd %ile). Developmental milestones: fine motor delay, gross motor delay. Behavioral/psychiatric evaluation: case diagnosed with ASD, attention deficit disorder, and obsessive-compulsive disorder. Brain imaging: not performed. Additional medical history: ventricular septal defect; bilateral urehtral reflux; hyperopia; increased appetite, became overweight in teenage years; high pain threshold. Dysmorphic features: malformed and discolored permanent teeth, marked cupid bow, broad upper lip frenulum, broad face. Growth parameters: head circumference 41.2 cm at 17 months (<3rd %ile).
Mild intellectual disability
105702087
107600064
1897978
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case370
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
105586608
105636159
49552
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
engchuan_15_ASD_discovery_controls-control110036010759_r
N/A
N/A
Control
No previous psychiatric history
106220786
106356516
135731
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036011773_
N/A
N/A
Control
No previous psychiatric history
105927498
106179228
251731
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
N/A
N/A
Control
No previous psychiatric history
105932116
106187624
255509
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC02971
PCR or SNP data validation (SNP VCF)
De novo
ZNF462
engchuan_15_ASD_discovery_cases-case3395_4
Unknown
LINC01505
engchuan_15_ASD_discovery_cases-case4197_1
Unknown
RALGAPA1P1,FSD1L
engchuan_15_ASD_discovery_cases-case8646_201
Unknown
LINC01505
gazzellone_14_ASD_discovery_cases-case576-3
Unknown
Unknown
Unknown
LINC01505
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003938
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGN2P32,RNU6-492P,KLF4,PPIAP88,RAD23B,LINC01509,ZNF462
marshall_08_ASD_discovery_cases-SK0045-003
qPCR, qmPCR
Unknown
NA
NA
PALM2,PALM2-AKAP2
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
RNA5SP292
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01505
sanders_11_ASD_discovery_cases-12115.p1
Paternal
Simplex (quad-proband matched)
Segregated
weiss_17_ASD/ID_discovery_cases-pedigree4subjectII1
De novo
Simplex
Segregated
MIR8081,RN7SKP77,RNA5SP292,HMGN2P32,RNU6-492P,KLF4,PPIAP88,RNU6-996P,RNU6-1064P,RAD23B,LINC01509,LINC01505,ZNF462
weiss_17_ASD/ID_discovery_cases-pedigree5subjectII1
De novo
Simplex
Segregated
SLC25A6P5,MIR8081,RN7SKP77,RNA5SP292,HMGN2P32,RNU6-492P,KLF4,PPIAP88,RAD23B,LINC01509,TMEM38B,LINC01505,ZNF462
yin_16_ASD_discovery_cases-case370
Unknown
Unknown
Unknown
FKTN
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036010759_r
Unknown
LINC01505
engchuan_15_ASD_discovery_controls-control110036011773_
Unknown
LINC01505
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
Unknown
LINC01505
No Animal Model Data Available