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Journal of Autism and Developmental Disorders

Gepubliceerd in:

15-02-2021 | Original Paper

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

Auteurs: Kei Ohashi, Satomi Fukuhara, Taishi Miyachi, Tomoko Asai, Masayuki Imaeda, Masahide Goto, Yoshie Kurokawa, Tatsuya Anzai, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Takanori Yamagata, Shinji Saitoh

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 12/2021

Abstract

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.

vorige artikel Factors Associated with Restricted, Repetitive Behaviors and Interests and Diagnostic Severity Level Ratings in Young Children with Autism Spectrum Disorder

volgende artikel Investigating Gaze Behaviour of Children Diagnosed with Autism Spectrum Disorders in a Classroom Setting

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Titel: Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
Auteurs: Kei Ohashi
Satomi Fukuhara
Taishi Miyachi
Tomoko Asai
Masayuki Imaeda
Masahide Goto
Yoshie Kurokawa
Tatsuya Anzai
Yoshinori Tsurusaki
Noriko Miyake
Naomichi Matsumoto
Takanori Yamagata
Shinji Saitoh
Publicatiedatum: 15-02-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 12/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-04910-3

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