6p23CNV Type: Deletion
Largest CNV size: 1264651 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
Strong association of de novo copy number mutations 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
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1287000
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
17034
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
30414
1
0
1
schaaf_12_ASD/DD/ID_discovery_cases
22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
24
ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
Range, 16 days-30 years (age at diagnosis)
66.7% Male
254691
1
0
1
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
1264651
1
0
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
38166
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
2010
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)
17034
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
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
1264651
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
leppa_16_ASD_discovery_cases
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_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
schaaf_12_ASD/DD/ID_discovery_cases
Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
aCGH
BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
None
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
leppa_16_ASD_discovery_cases-AU010604
N/A
M
ASD
13884641
15172037
1287397
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case82359L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
15316169
15333202
17034
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
15161349
15191763
30415
GRCh38
Deletion
No
schaaf_12_ASD/DD/ID_discovery_cases-caseI2
12 months
M
Multiple congenital anomalies
Autism: No. ADHD: N/A. Developmental milestones: sitting, 8 mo; walking, 12 mo; first word, 12 mo. Seizures: None. EEG: None. Brain MRI: Microcephaly, thin corpus callosum. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: Secundum ASD. Dysmorphic features: Low set, posteriorly rotated ears, epicanthal folds, depressed nasal bridge. Growth parameters: weight (%ile), <1; length (%ile), 6; FOC (%ile), <1. Ethnicity: Asian. Vision: Normal. Hearing: Normal.
Unknown
14475924
14730615
254692
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-AU010604
NA
M
Autism
NA
NA
13997280
15261931
1264651
Unknown
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-controlB814661_1007853854
N/A
N/A
Control
No previous psychiatric history
14856126
14894292
38167
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36751A
N/A
F
Control
NIMH Control (NIMH ID 26861)
13800339
13802348
2010
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
leppa_16_ASD_discovery_cases-AU010604
De novo
Multiplex
Not segregated
MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,RNF182,CD83
prasad_12_ASD_discovery_cases-case82359L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-12359.p1
Unknown
Simplex (quad-proband matched)
Segregated
schaaf_12_ASD/DD/ID_discovery_cases-caseI2
Unknown
Unknown
Unknown
RNU6-793P
sebat_07_ASD_discovery_cases-AU010604
390K ROMA or Agilent 244K aCGH, microsatellite
De novo
Multiplex
NA
RNF182,CD83
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB814661_1007853854
Unknown
poultney_13_ASD_discovery_controls-control04C36751A
Unknown
MCUR1
No Animal Model Data Available