9q22.3CNV Type: Duplication
Largest CNV size: 151743 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo duplication within this region containing no RefSeq genes identified in an ASD proband from the Simons Simplex Collection (Krumm et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
151743
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
121000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
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
krumm_15_ASD_discovery_cases-case12235.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
128106149
128257892
151744
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case2
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
91919297
92040024
120728
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
krumm_15_ASD_discovery_cases-case12235.p1
Illumina 1MDuo
De novo
Simplex
Segregated
SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,SLC25A25,PTGES2,DNM1,GOLGA2,CIZ1
napoli_17_ASD_discovery_cases-case2
RT-PCR
Unknown
HSPE1P22,ROR2,SPTLC1
Controls
No Control Data Available
No Animal Model Data Available