10q11.21-q11.22CNV Type: Duplication
Largest CNV size: 2499168 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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
1686125
0
1
1
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
2499168
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
206834
0
1
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
1039472
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
2241748
0
1
1
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
2499168
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gregory_09_ASD_discovery_cases-200510454
NA
ASD
NA
NA
45533759
47923579
2389821
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1071-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: no. Intellectual disability: yes.
45985138
46191971
206834
NCBI36
Duplication
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
46157935
47923579
1765645
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-controlB598008_1007848531
N/A
N/A
Control
No previous psychiatric history
45825750
47923579
2097830
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gregory_09_ASD_discovery_cases-200510454
Unknown
NA
NA
FAM25E,RNA5SP310,SNORA74C-1,RPL23AP61,FAM25BP,GPRIN2,RHEBP1,RN7SL248P,CTSLP2,DUSP8P3,RNA5SP311,GDF2,FAM25G,RNA5SP312,GLUD1P8,DUSP8P4,RN7SL453P,RHEBP2,ZFAND4,AGAP10P,FAM21FP,AGAP4,RPL35AP25,TIMM23,MSMB,AGAP7P,ANTXRL,AGAP14P,ANXA8L1,HNRNPA1P33,NPY4R,SYT15,SHLD2P1,GLUD1P2,AGAP13P,FRMPD2B,GDF10,RBP3,ZNF488,ANXA8,AGAP9,BMS1P2,NPY4R2,MARCH8,WASHC2C,PARGP1,NCOA4,ANTXRLP1,LINC00842,BMS1P1,PTPN20,SHLD2P3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1071-0
Not tested by qPCR
Unknown
Unknown
Unknown
BMS1P5,CR604707,DKFZp566K0524,FRMPD2L1,PTPN20A,PTPN20B
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
FAM25BP,GPRIN2,RHEBP1,RN7SL248P,CTSLP2,DUSP8P3,RNA5SP311,GDF2,FAM25G,RNA5SP312,GLUD1P8,DUSP8P4,RN7SL453P,RHEBP2,ANTXRL,AGAP14P,ANXA8L1,HNRNPA1P33,NPY4R,SYT15,SHLD2P1,GLUD1P2,AGAP13P,FRMPD2B,GDF10,RBP3,ZNF488,ANXA8,AGAP9,BMS1P2,NPY4R2,ANTXRLP1,LINC00842,BMS1P1,PTPN20,SHLD2P3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB598008_1007848531
Unknown
RNA5SP310,SNORA74C-1,RPL23AP61,FAM25BP,GPRIN2,RHEBP1,RN7SL248P,CTSLP2,DUSP8P3,RNA5SP311,GDF2,FAM25G,RNA5SP312,GLUD1P8,DUSP8P4,RN7SL453P,RHEBP2,AGAP4,RPL35AP25,TIMM23,MSMB,AGAP7P,ANTXRL,AGAP14P,ANXA8L1,HNRNPA1P33,NPY4R,SYT15,SHLD2P1,GLUD1P2,AGAP13P,FRMPD2B,GDF10,RBP3,ZNF488,ANXA8,AGAP9,BMS1P2,NPY4R2,PARGP1,NCOA4,ANTXRLP1,LINC00842,BMS1P1,PTPN20,SHLD2P3
No Animal Model Data Available