22q11.23-q12.1CNV Type: Duplication
Largest CNV size: 76585 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Two duplications in this region identified in Finnish ASD cases; however, 3 deletions in this same region in Finnish controls
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
76585
0
2
2
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
269000
1
0
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
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
250186
3
0
3
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
kanduri_15_ASD_discovery_cases-case1939
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
25898162
25905668
7507
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case2955
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
25829084
25905668
76585
Unknown
Duplication
No
soueid_16_ASD_discovery_cases-caseCLIN24
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
25260270
25529111
268842
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
kanduri_15_ASD_discovery_controls-control_split1882
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
25664408
25914593
250186
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split198
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
25707443
25908441
200999
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split200
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
25661725
25910667
248943
Unknown
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_cases-case1939
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, CRYBB2P1(dist=40517),ADRBK2(dist=55193)
kanduri_15_ASD_discovery_cases-case2955
Maternal
Unknown
Unknown
CRYBB2P1,MIR6817 (non-coding RNA, exonic)
soueid_16_ASD_discovery_cases-caseCLIN24
Paternal
Simplex
IGLL3P,IGLVIVOR22-1,MIR6817,LRP5L,CRYBB2P1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1882
Unknown
LRP5L
kanduri_15_ASD_discovery_controls-control_split198
Unknown
LRP5L
kanduri_15_ASD_discovery_controls-control_split200
Unknown
LRP5L
No Animal Model Data Available