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

被引：0
作者：
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
机构：
[1] Nagoya City University,Department of Pediatrics and Neonatology, Graduate School of Medical Sciences
[2] Jichi Medical University,Department of Pediatrics
[3] Yokohama City University Graduate School of Medicine,Department of Human Genetics
[4] Sagami Women’s University,Faculty of Nutritional Science
来源：
Journal of Autism and Developmental Disorders | 2021年 / 51卷
关键词：
Autism spectrum disorder; Genetic analysis; Whole-exome sequencing; Microarray comparative genomic hybridization;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：4655 / 4662
页数：7
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