Genetic analysis of TIA1 gene in Chinese patients with amyotrophic lateral sclerosis

• Published in: Neurobiology of aging Vol. 67; pp. 201.e9 - 201.e10
• Main Authors: Zhang, Kang, Liu, Qing, Shen, Dongchao, Tai, Hongfei, Fu, Hanhui, Liu, Shuangwu, Wang, Zhili, Shi, Jiayu, Ding, Qingyun, Li, Xiaoguang, Liu, Mingsheng, Cui, Liying, Zhang, Xue
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2018
• Subjects: Amyotrophic lateral sclerosis; Mutation; TIA1; Amyotrophic lateral sclerosis; TIA1; Mutation
• ISSN: 0197-4580; 1558-1497; 1558-1497
• DOI: 10.1016/j.neurobiolaging.2018.03.020

Mutations in the low-complexity domain (LCD) of T cell–restricted intracellular antigen-1 (TIA1) was recently identified to be associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in non-Hispanic white populations. We sequenced the TIA1 exons 11-13 encoding LCD in a series of 588 Chinese ALS/ALS-FTD patients (Familial ALS = 29; Sporadic ALS = 546; ALS-FTD = 13) and 500 neurologically normal control subjects. We found a novel heterozygous missense mutation (c.973A>G, p.N325D) in a sporadic ALS patient, which suggests that TIA1 LCD mutations are not common in Chinese ALS/ALS-FTD.