4q31.22CNV Type: Deletion-Duplication
Largest CNV size: 120856 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1317000
1
0
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
156458
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
104911
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
120856
8
1
9
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
1317067
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
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
290125
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
104911
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.
231453
7
1
8
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
1317067
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
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
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
chen_17_ASD_discovery_cases-caseU-1535
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 2 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 7); Qualitative abnormalities in nonverbal communication, current score 1 (past score 3); Restricted, repetitive, and stereotyped patterns of behaviour, current score 0 (past score 0); Abnormality of development evident at or before 36 months, past score 0. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 45; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 32. Epilepsy: no history of epilepsy.
Performance IQ 77, Verbal IQ 93, Full-scale IQ 83
145891725
147208791
1317067
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI2512
NA
NA
Autism
NA
NA
144353887
144510345
156459
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11436.p1
NA
M
ASD
NA
NA
146117481
146222391
104911
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
144000454
144064174
63721
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
145354102
145364972
10871
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
146130195
146222420
92226
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
145352406
145364972
12567
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
144740758
144758614
17857
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
144740758
144758614
17857
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
145354102
145364972
10871
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
143986523
144021927
35405
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
144000454
144121310
120857
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case210
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
145891725
147208791
1317067
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-controlB940324_1007844505
N/A
N/A
Control
No previous psychiatric history
144072718
144135334
62617
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902672_902672
N/A
N/A
Control
No previous psychiatric history
145941063
146231188
290126
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11436.s1
NA
F
Control
NA
NA
146117481
146222391
104911
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
144000454
144093385
92932
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
145040984
145167441
126458
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
144000454
144115458
115005
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11638.s1
14.4
M
Control (matched sibling)
NA
NA
143935069
144115458
180390
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
143978180
144073750
95571
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
145354102
145364972
10871
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
143890604
144122057
231454
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
143988650
144119362
130713
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-1535
RT-qPCR
De novo
MIR7849,RNU1-44P,POU4F2,LINC01095,LSM6,REELD1,ZNF827,SLC10A7,TTC29
itsara_10_ASD_discovery_cases-HI2512
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
levy_11_ASD_discovery_cases-11436.p1
Paternal
Simplex
Not segregated
LINC01095,LSM6,REELD1
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYPB
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11436.p1
Paternal
Simplex (quad-proband matched)
Segregated
LSM6,REELD1
sanders_11_ASD_discovery_cases-11808.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12117.p1
Unknown
Simplex (quad-proband matched)
Not segregated
HHIP
sanders_11_ASD_discovery_cases-12137.p1
Unknown
Simplex (trio)
NA
HHIP
sanders_11_ASD_discovery_cases-12361.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYPB
sanders_11_ASD_discovery_cases-13175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYPB,GYPA
yin_16_ASD_discovery_cases-case210
Unknown
Unknown
Unknown
MIR7849,RNU1-44P,POU4F2,LINC01095,LSM6,REELD1,ZNF827,SLC10A7,TTC29
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB940324_1007844505
Unknown
GYPA
engchuan_15_ASD_discovery_controls-controlHABC_902672_902672
Unknown
LINC01095,LSM6,REELD1
levy_11_ASD_discovery_controls-11436.s1
Paternal
Simplex
NA
LINC01095,LSM6,REELD1
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
GYPB
sanders_11_ASD_discovery_controls-11101.s1
Unknown
Simplex (quad)
NA
ABCE1,OTUD4,ANAPC10
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
GYPB,GYPA
sanders_11_ASD_discovery_controls-11638.s1
Paternal
Simplex (quad)
NA
GYPB,GYPA
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
GYPB
sanders_11_ASD_discovery_controls-11916.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11920.s1
Unknown
Simplex (quad)
NA
GYPE,GYPB,GYPA
sanders_11_ASD_discovery_controls-13175.s1
Maternal
Simplex (quad)
NA
GYPB,GYPA
No Animal Model Data Available