Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population

Min Rou Lin, Po Hsin Chou, Kuei Jung Huang, Jafit Ting, Chia Ying Liu, Wan Hsuan Chou, Gan Hong Lin, Jan Gowth Chang, Shiro Ikegawa, Shih Tien Wang, Wei Chiao Chang

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1 引文 斯高帕斯(Scopus)

摘要

Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal curvature deformity that appears in the adolescent period. In this study, we performed whole-exome sequencing on 11 unrelated Taiwanese patients with a Cobb’s angle greater than 40 degrees. Our results identified more than 200 potential pathogenic rare variants, however, most of which were carried only by one individual. By in silico pathogenicity annotation studies, we found that TTN, CLCN1, and SOX8 were the most important genes, as multiple pathogenic variants were within these genes. Furthermore, biological functional annotation indicated critical roles of these AIS candidate genes in the skeletal muscle. Importantly, a pathogenic variant on SOX8 was shared by over 35% of the patients. These results highlighted TTN, CLCN1, and SOX8 as the most likely susceptibility genes for severe AIS.
原文英語
文章編號32
期刊Journal of Personalized Medicine
13
發行號1
DOIs
出版狀態已發佈 - 1月 2023

ASJC Scopus subject areas

  • 醫藥(雜項)

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