Xq21.2CNV Type: Deletion
Largest CNV size: 36995 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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
10915
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
475879
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
62893
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
36995
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
56545
1
1
2
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
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.
159603
1
1
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
nord_11_ASD_discovery_cases-270-1
ASD
85616927
85627841
10915
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_569
3 yrs.
F
Developmental delay
Additional clinical information N/A
Global developmental delay
86035723
86511602
475880
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-306
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
86779696
86842588
62893
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
86538173
86547113
8941
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
86853231
86890226
36996
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-controlB322838_1007872284
N/A
N/A
Control
No previous psychiatric history
86547113
86603658
56546
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB683202_1007841019
N/A
N/A
Control
No previous psychiatric history
86534375
86589976
55602
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
85579803
85739406
159604
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
85430899
85494239
63341
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_cases-270-1
Maternal
DACH2
quintela_17_DD/ID_discovery_cases-caseID_569
Unknown
Unknown
NDUFA5P7,STIP1P3,TPMTP4,EEF1A1P29,GEMIN8P3,FCF1P9,DACH2,CHM
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-306
qPCR
Maternal
Unknown
Unknown
DACH2
sanders_11_ASD_discovery_cases-11453.p1
Maternal
Simplex (quad-proband matched)
Segregated
DACH2
sanders_11_ASD_discovery_cases-12827.p1
Paternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
Unknown
DACH2
engchuan_15_ASD_discovery_controls-controlB683202_1007841019
Unknown
DACH2
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available