Xp21.2-p21.1CNV Type: Deletion
Largest CNV size: 721085 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A maternally-inherited deletion in this region, which included the DMD gene, was identified in a male ASD case from a simplex family (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
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Frequency and Complexity of De Novo Structural Mutation in Autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
N/A
0
1
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
1089975
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
721085
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
791548
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
N/A
N/A
None
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_16_ASD_discovery_cases_case3
N/A
M
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician. Case carries a duplication-inversion-duplication event that duplicates the Dp71 isoform of DMD and disrupts TAB3.
N/A
N/A
N/A
GRCh37
Duplication
No
kushima_22_BPD_discovery_cases-caseBD0422
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
31149161
32239135
1089975
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8597_201
N/A
M
ASD
ASD diagnosis (autism on ADI-R and ASD on ADOS), no language delay, vision impairment (hypermetropia); physical exam at 19 y: weight, height and head circumference 50%ile, no muscular deficit, no epilepsy, no information reported about muscular dystrophy/muscle problems in the family. Family history: mother with ADHD, some degree of learning disability disorder and vision impairment; father with vision impairment.
Average IQ (VIQ 97, PIQ 104, FSIQ 104)
31375940
32097024
721085
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0757-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
30808785
31600332
791548
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_16_ASD_discovery_cases_case3
Maternal
Unknown
Unknown
DMD
kushima_22_BPD_discovery_cases-caseBD0422
qRT-PCR
Unknown
DMD,NPM1P8,RNA5SP501,RNU6-894P
pinto_14_ASD_discovery_cases2-case8597_201
qPCR
Maternal (X-linked in a male)
Simplex
Unknown (not tested; possible X-linked segregation)
DMD
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0757-003
RT-qPCR or WGS
Maternal
TAB3-AS2,FTHL17,RNU6-894P,TAB3-AS1,TAB3,DMD
null
Controls
No Control Data Available
No Animal Model Data Available