9q21.11-q21.12CNV Type: Deletion
Largest CNV size: 583784 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
580626
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
4861000
1
0
1
pagnamenta_11_ASD_discovery_cases
Two male autistic individuals from IMGSAC cohort family 3019. Affected individual 3019.3 was previously described in Pinto et al., 2010 CNV study.
2
Narrowly defined autism (ADOS)
11 yrs. 2 mo.-22 yrs. 7 mo.
Male
583784
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
289200
2
0
2
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
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.
8456
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
None
pagnamenta_11_ASD_discovery_cases
Solid phase hybridization
Illumina 1M
Long-range PCR, FISH
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
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_cases-case3019_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70678150
71258776
580627
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14254.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
69235264
74105264
4870001
GRCh38
Deletion
No
pagnamenta_11_ASD_discovery_cases-case3019.3
22 yrs. 7 mo.
M
Autism
Delayed language development (first words at 30 mo., short phrases at 42 mo.); responded well to speech therapy. Articulation dyspraxia (clumsiness, poor coordination, odd head movements, body contortions); very poor gross motor control. Obsessional interests noted at 2 yrs., fear of crowds, temper tantrums. Individual was previously described in Pinto et al., 2010 CNV study.
Verbal & performance IQ (Wechsler Preschool & Primary Scale of Intelligence) at 5 yrs. 8 mo.: 87 and 76, respectively; Verbal IQ (BPVS) at 22 yrs. 7 mo.: 130
70675677
71259460
583784
GRCh38
Deletion
Yes
pagnamenta_11_ASD_discovery_cases-case3019.5
11 yrs. 2 mo.
M
Autism
General developmental delay; first words at 12 months, first phrases delayed at 60 months; sat unaided at 8 months, walked at 17 months; toilet training not fully achieved at 8 yrs when seen for diagnostic assessment; no indications of any specific motor development issues.
Moderate learning difficulties; verbal IQ (BPVS) at 11 yrs. 2 mo.: 62
70675677
71259460
583784
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR022-A8-3019.004
NA
ASD
NA
NA
70775130
71064330
289201
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR022-H7-3019.003
NA
ASD
NA
NA
70775130
71064330
289201
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
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
70887508
70895964
8457
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case3019_3
Unknown
MIR204,PIGUP1,TRPM3
girirajan_13a_ASD_discovery_cases-14254.p1
Unknown
Simplex
Unknown
C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,BANCR,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,FAM189A2,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,TJP2,SMC5-AS1,TRPM3,ZFAND5
pagnamenta_11_ASD_discovery_cases-case3019.3
Long-range PCR, FISH
Paternal
Multiplex
Not segregated
MIR204,PIGUP1,TRPM3
pagnamenta_11_ASD_discovery_cases-case3019.5
Long-range PCR, FISH
Paternal
Multiplex
Not segregated
MIR204,PIGUP1,TRPM3
szatmari_07_ASD_discovery_cases-NAAR022-A8-3019.004
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR204,PIGUP1,TRPM3
szatmari_07_ASD_discovery_cases-NAAR022-H7-3019.003
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR204,PIGUP1,TRPM3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
TRPM3
No Animal Model Data Available