Mutation screening of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis/frontotemporal dementia

Mutations in the low-complexity domain (LCD) of T-cell intracellular antigen-1 (TIA1) have been reported to be associated with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) in the Caucasian population. In the present study, we aimed to screen mutations in the LCD (exon 11-13) of TIA1 and determine the mutation frequency in Chinese ALS/FTD patients. A total of 740 ALS patients, including 721 sporadic ALS (sALS), 19 familial ALS, 24 FTD patients, and 501 healthy controls, were directly sequenced. A novel variant p.S349P was found in a male sALS patient who presented with mild cognitive decline and a survival time of 1.23 years since onset. No mutation in the LCD of TIA1 was found in the familial ALS and FTD patients. The mutation frequency of TIA1 was 0.14% (1/721) in Chinese sALS patients, which suggests that TIA1 mutation is an uncommon genetic cause for ALS in the Chinese population. (C) 2018 Elsevier Inc. All rights reserved.

据报道，在高加索人群中，T细胞内抗原 - 1（TIA1）的低复杂性结构域（LCD）突变与肌萎缩侧索硬化/额颞叶痴呆（ALS/FTD）相关。在本研究中，我们旨在筛选TIA1的LCD（外显子11 - 13）突变，并确定中国ALS/FTD患者的突变频率。对总共740例ALS患者（包括721例散发性ALS（sALS）、19例家族性ALS、24例FTD患者）以及501例健康对照进行直接测序。在一名男性sALS患者中发现了一种新的变异p.S349P，该患者出现轻度认知下降，发病后存活时间为1.23年。在家族性ALS和FTD患者中未发现TIA1的LCD突变。在中国sALS患者中，TIA1的突变频率为0.14%（1/721），这表明TIA1突变在中国人群中是ALS的一种不常见的遗传病因。（C）2018爱思唯尔公司。保留所有权利。