10q23.32-q23.33CNV Type: Duplication
Largest CNV size: 1400000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNV screening of 133 Italian children with a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, in Napoli et al., 2017 identified a duplication of unknown origin in the 10q23.32-q23.33 locus in a male ASD proband.
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
1359004
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
1400000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
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
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
cucinotta_23_ASD_discovery_cases-case298
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
92114215
93473218
1359004
GRCh38
Duplication
No
napoli_17_ASD_discovery_cases-case39
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
92114216
93473218
1359003
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
cucinotta_23_ASD_discovery_cases-case298
Maternal
CYP26A1,MYOF,EXOC6,MARCHF5,IDE,HHEX,EIF2S2P3,CYP26C1,XRCC6P1,NIP7P1,NHP2P1,RPL17P34,SDHCP2,KIF11,RPL11P4,EIF4A1P8,MARK2P9,RNY3P12,RN7SL644P,CPEB3
napoli_17_ASD_discovery_cases-case39
RT-PCR
Unknown
SDHCP2,EIF4A1P8,NHP2P1,RNY3P12,MARK2P9,RPL11P4,RN7SL644P,EIF2S2P3,HHEX,NIP7P1,RPL17P34,MARCH5,KIF11,CYP26A1,XRCC6P1,IDE,EXOC6,CYP26C1,MYOF,CPEB3
Controls
No Control Data Available
No Animal Model Data Available