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.