10q21.2-q21.3CNV Type: Deletion
Largest CNV size: 247158 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
firouzabadi_16_ASD_discovery_cases
Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
15
ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
N/A
N/A
1100000
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
247158
1
0
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
0
0
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
firouzabadi_16_ASD_discovery_cases
Iranian
aCGH
BlueGnome CytoChip ISCA 8x60K v2.0
BlueFuse Multi v3
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
firouzabadi_16_ASD_discovery_cases-patient5
16 yrs.
M
ASD
Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: ADHD, aggressive behavior. Epilepsy/seizures: treatment-resistant epilepsy. EEG: multifocal epileptiform waves and polyspike discharges. Additional medical history: hepatomegaly, coarse liver. Dysmorphic features: open mouth, low set ears, palpebral fissure, puffiness of upper eyelid. Growth parameters: macrocephaly.
Intellectual disability
62509506
63621172
1111667
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case25301
NA
NA
ASD
NA
NA
64607543
64854701
247158
Unknown
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
firouzabadi_16_ASD_discovery_cases-patient5
De novo
Simplex
Likely segregated
ALDH7A1P4,ADO,RNU6-543P,TATDN1P1,MIR1296,PRELID1P3,JMJD1C-AS1,NRBF2,ZNF365,JMJD1C,REEP3,EGR2
rosenfeld_10_ASD_discovery_cases-case25301
FISH
De novo
Unknown
Unknown
JMJD1C
Controls
No Control Data Available
No Animal Model Data Available