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

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

doi:10.1016/j.neurobiolaging.2018.03.020

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

Neurobiol Aging. 2018 Jul:67:201.e9-201.e10. doi: 10.1016/j.neurobiolaging.2018.03.020. Epub 2018 Mar 23.

Authors

Affiliations

¹ Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
² Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing, China. Electronic address: [email protected].
³ Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing, China; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, China. Electronic address: [email protected].

PMID: 29699721
DOI: 10.1016/j.neurobiolaging.2018.03.020

Abstract

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.

Keywords: Amyotrophic lateral sclerosis; Mutation; TIA1.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Asian People / genetics
Frontotemporal Dementia / genetics
Genetic Association Studies*
Humans
Mutation, Missense*
T-Cell Intracellular Antigen-1 / genetics*

Substances

T-Cell Intracellular Antigen-1
TIA1 protein, human