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

ABSTRACT: 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.

SUBMITTER: Lin MR 

PROVIDER: S-EPMC9865588 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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

Lin Min-Rou MR   Chou Po-Hsin PH   Huang Kuei-Jung KJ   Ting Jafit J   Liu Chia-Ying CY   Chou Wan-Hsuan WH   Lin Gan-Hong GH   Chang Jan-Gowth JG   Ikegawa Shiro S   Wang Shih-Tien ST   Chang Wei-Chiao WC  

Journal of personalized medicine 20221223 1

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 <i>TTN</i>, <i>CLCN1</i>, and <i>SOX8</i> were t  ...[more]

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