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Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy

Authors
 Junghan Lee  ;  Sungji Ha  ;  Seung-Tae Lee  ;  Sung-Gyun Park  ;  Saeam Shin  ;  Jong Rak Choi  ;  Keun-Ah Cheon 
Citation
 FRONTIERS IN PHARMACOLOGY, Vol.11 : 585, 2020-05 
Journal Title
 FRONTIERS IN PHARMACOLOGY 
Issue Date
2020-05
Keywords
autism genetics ; autism spectrum disorder ; clinical exome sequencing ; epilepsy ; next-generation sequencing
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and restricted and repetitive behaviors and interests. Identifying the genetic background may be one of the key features for the future diagnosis and treatment of ASD. With the tremendous development in genetic diagnosis techniques, next-generation sequencing (NGS) can be used to analyze multiple genes simultaneously with a single test in laboratory and clinical settings and is well suited for investigating autism genetics. According to previous studies, there are two types of genetic variants in ASD, rare variants and common variants, and both are important in explaining pathogenesis. In this study, NGS data from 137 participants with ASD were reviewed retrospectively with consideration for comorbid epilepsy. Diagnostic yield was 17.51% (24/137), and pathogenic/likely pathogenic variants were seen more frequently in female participants. Fourteen participants were diagnosed with comorbid epilepsy, six of them had pathogenic/likely pathogenic variants (43%). Genes with variants of unknown significance (VOUS) which have one or more evidence of pathogenicity following the American College of Medical Genetics (ACMG) criteria were also reviewed in both ASD and ASD with comorbid epilepsy groups. We found that most frequently found VOUS genes have previously been reported as genes related to ASD or other developmental disorders. These results suggest that when interpreting the NGS results in the clinical setting, careful observation of VOUS with some pathological evidence might contribute to the discovery of genetic pathogenesis of neurodevelopmental disorders such as ASD and epilepsy.
Files in This Item:
T202001594.pdf Download
DOI
10.3389/fphar.2020.00585
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Psychiatry (정신과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Junghan(이정한)
Cheon, Keun Ah(천근아) ORCID logo https://orcid.org/0000-0001-7113-9286
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/176196
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