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

Publication date: July 2018
Source:Neurobiology of Aging, Volume 67
Author(s): Kang Zhang, Qing Liu, Dongchao Shen, Hongfei Tai, Hanhui Fu, Shuangwu Liu, Zhili Wang, Jiayu Shi, Qingyun Ding, Xiaoguang Li, Mingsheng Liu, Liying Cui, Xue Zhang
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.



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