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Yq11.221CNV Type: Duplication


Largest CNV size: 116927 bp

Statistics Box:
Number of Reports: 2



Summary Information

A pair of triplications within this locus, one of which involved the NLGN4Y gene, were identified in a male patient with ASD and developmental delay that was part of a cohort investigating the prevalence of ASTN1- and ASTN2-containing CNVs in a mixed diagnosis population (Lionel et al., 2013).

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 28598
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 116927
 0
 4
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 486524
 0
 1
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  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
  gazzellone_14_ASD_discovery_cases-case565-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 14049049
 14077647
  28599
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 N/A
 M
 ASD and developmental delay
 Autism/autistic behavior, developmental delay
 
 14441683
 14548141
  106459
 GRCh38
 Triplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 N/A
 M
 ASD and developmental delay
 Autism/autistic behavior, developmental delay
 
 14058305
 14175231
  116927
 GRCh38
 Triplication
 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
  girirajan_11_ASD_discovery_controls-NIMH_208
  NA
  NA
  Control
  NA
  NA
  15304953
  15791477
  486525
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 gazzellone_14_ASD_discovery_cases-case565-3
 
 
 Unknown
 Unknown
 Unknown
 VCY1B
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 
 
 Unknown
 
 
 NLGN4Y
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
 
 
 Unknown
 
 
 PNPLA4P1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_controls-NIMH_208
 
 
  Unknown
 
 
  PUDPP1,STSP1
 

No Animal Model Data Available
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