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Xp21.2-p21.1CNV Type: Deletion


Largest CNV size: 721085 bp

Statistics Box:
Number of Reports: 3



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

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
NA
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
 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
  NA NA
 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

No Control Data Available

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
 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

No Control Data Available

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
  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
  NA NA
 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
 
 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
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