Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort
Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort
复制标题
中国额颞叶痴呆和肌萎缩侧索硬化症患者的罕见 TBK1 变异
DOI：
10.1186/s40035-018-0136-6
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发表时间：
2018-12-04
影响因子：
12.6
通讯作者：
Shen, Lu
中科院分区：
文献类型：
--
作者：
Jiao, Bin;Sun, Qiying;Shen, Lu
Background:The TANK-Binding Kinase 1 (TBK1) gene has recently been identified as the third or fourth most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the genetic contribution ofTBK1in a Chinese cohort.Methods:A total of 270 cases with ALS, FTD, or their combination were recruited into this study. All the coding exons ofTBK1and intron-exon boundaries were sequenced using Sanger sequencing. The frequency ofTBK1variants and the correlation with clinical phenotypes were analyzed.Results:A novel mutation (c.1959_1960insGT, p.E653fs) was identified in a sporadic case with semantic dementia, secondarily developing ALS. Another novel variant (c.2063_2064delTT, p.L688Rfs*14) was found in an ALS-FTD family. Totally, theTBK1variants could only account for 0.7% of cases.Conclusions:This study enlarges the genetic and phenotypic spectrum ofTBK1mutation in a Chinese cohort. Our data indicates thatTBK1mutation is not a common cause for ALS and FTD in Chinese patients.
