11q14.2-q14.3CNV Type: Deletion
Largest CNV size: 1981022 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A paternally-inherited deletion within this region was identified in a male ASD case; a healthy sister was not available for testing, and the case's father had a history of reading difficulty and possible social impairment (Pinto et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
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
1981021
1
0
1
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
144832
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
1981022
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
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
engchuan_15_ASD_discovery_cases-case8549_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86555641
88552536
1996896
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0042217
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
88508590
88653421
144832
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case8549_201
N/A
M
ASD
Autism on ADI-R and ADOS; height and weight normal; front teeth protruding and conspicuous, no other dysmorphic features; astigmatism; fitted with splints for aberrant leg growth and mild deformation of hips at 18 mo; no epilepsy; brain CT at 8 y: mild dilatation of occipital horn of the left ventricle and mild atrophy in that region. Family history: father has reading difficulty and may have social impairment; mother with macular degeneration and mood disorder.
Average IQ (VIQ 101, PIQ 107, FSIQ 104)
86555641
88552536
1996896
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case8549_201
Unknown
OR7E13P,OR7E2P,HNRNPCP8,XIAPP2,PSMA2P1,RNU6-1135P,MTCYBP41,MIR3166,GAPDHP70,FZD4,RAB38,CTSC,GRM5-AS1,ME3,PRSS23,TMEM135,GRM5
feliciano_19_ASD_discovery_cases-caseSP0042217
Paternal
Simplex
RNU6-16P,GRM5-AS1,GRM5
null
pinto_14_ASD_discovery_cases2-case8549_201
qPCR
Paternal
Unknown
Unknown (1 healthy sister, not tested)
OR7E13P,OR7E2P,HNRNPCP8,XIAPP2,PSMA2P1,RNU6-1135P,MTCYBP41,MIR3166,GAPDHP70,FZD4,RAB38,CTSC,GRM5-AS1,ME3,PRSS23,TMEM135,GRM5
Controls
No Control Data Available
No Animal Model Data Available