Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exom...

Full description

Saved in:
Bibliographic Details
Published inJournal of autism and developmental disorders Vol. 51; no. 12; pp. 4655 - 4662
Main Authors Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, Saitoh, Shinji
Format Journal Article
LanguageEnglish
Published New York Springer US 01.12.2021
Springer
Springer Nature B.V
Subjects
Analysis
Autism
Autism Spectrum Disorders
Behavioral Science and Psychology
Causes of
Child and School Psychology
Clinical medicine
College Science
Data Analysis
Database Management Systems
Departments
Diagnosis
Etiology
Genes
Genetic analysis
Genetic aspects
Genetic factors
Genetic screening
Genetics
Genomics
Hybridization
Influence of Technology
Mental Disorders
Neurosciences
Original Paper
Parent Participation
Patients
Pediatrics
Pervasive Developmental Disorders
Psychological Patterns
Psychology
Public Health
Rating Scales
Reference Materials
Sequence analysis
Siblings
Tests
Variants
Japan
Microarray comparative genomic hybridization
Whole-exome sequencing
Autism spectrum disorder
Genetic analysis
Online AccessGet full text

Cover

More Information
Summary:Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ISSN:0162-3257
1573-3432
1573-3432
DOI:10.1007/s10803-021-04910-3