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Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis.

Neurobiology of aging - 1 May 2021

Cao Bei, Gu Xiaojing, Wei Qianqian, Li Chunyu, Chen Yongping, Ou Ruwei, Hou Yanbing, Zhang Lingyu, Li Tao, Song Wei, Zhao Bi, Wu Ying, Chen Xueping, Shang Huifang

Abstract excerpt

The glycosyltransferase 8 domain containing 1 (GLT8D1) gene was identified to be an amyotrophic lateral sclerosis (ALS)-causative gene via pedigree cosegregation and burden analysis. In the present study, 977 Chinese sporadic ALS (sALS) cases and 47 Chinese familial ALS (fALS) cases underwent whole-exome sequencing. Rare variants with minor allele frequency <0.1% in GLT8D1 were analyzed. One likely pathogenic...

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PMID: 33581933
DOI: 10.1016/j.neurobiolaging.2020.10.017

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