Yq11.221CNV Type: Duplication
Largest CNV size: 116927 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
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
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
287000
0
1
1
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
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
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
chan_22_ASD_discovery_cases-case3-0174-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: premature birth (born at 30+1 weeks gestation), intubated and ventilated for four days followed by a six week NICU stay. Language and communication evaluation: loss of a 20-word vocabulary at 2 years, followed by usage of single words at 2 years 9 months and usage of simple sentences at 3 years 10 months, difficulties with pragmatic language skills at 8 years 2 months. Epilepsy/seizures: no clinical seizures by 8 years 2 months. EEG: persistent focal epileptiform discharges from the left central region at 7 years. Brain imaging: normal brain MRI. Dysmorphic features: high frontal hairline with double hair whorl, long downslanting palpebral fissures, wide space between upper central incisors with two supernumerary canines, bilateral cutaneous 2-3 toe syndactyly (1/2 to 3/4 of interdigital space). Family history: his father had no neurodevelopmental phenotype.
14599121
14886120
287000
GRCh38
Duplication
No
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
chan_22_ASD_discovery_cases-case3-0174-000
Paternal
AGKP1,NLGN4Y-AS1,NLGN4Y
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