Tian Danyang, Li Jiao, Tang Lu, Zhang Nan, Fan Dongsheng
Department of Neurology, Peking University Third Hospital, Beijing, China.
Key Laboratory for Neuroscience, Ministry of Education/National Health Commission, Peking University, Beijing, China.
Front Aging Neurosci. 2018 Jun 29;10:185. doi: 10.3389/fnagi.2018.00185. eCollection 2018.
Previous research has identified mutations in familial (FALS) and sporadic amyotrophic lateral sclerosis (SALS), as well as in frontotemporal dementia (FTD). The aim of our study was to measure the frequency of mutations in a Chinese population. In total, 78 FALS patients, 581 SALS patients and 584 controls were included. We found 19 missense mutations, nine synonymous mutations and two intron variants. According to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, eight variants were judged to be pathogenic or likely pathogenic variants. The frequency of such variants was 2.56% in FALS and 1.03% in SALS. In conclusion, mutations are common in FALS and SALS patients of Chinese origin, and further study is still needed.
先前的研究已经在家族性肌萎缩侧索硬化症（FALS）、散发性肌萎缩侧索硬化症（SALS）以及额颞叶痴呆（FTD）中鉴定出了突变。我们研究的目的是测定中国人群中突变的频率。总共纳入了78例FALS患者、581例SALS患者和584例对照。我们发现了19个错义突变、9个同义突变和2个内含子变异。根据美国医学遗传学与基因组学学会（ACMG）关于序列变异解读的标准和指南，8个变异被判定为致病或可能致病的变异。此类变异在FALS中的频率为2.56%，在SALS中的频率为1.03%。总之，突变在中国籍FALS和SALS患者中很常见，仍需要进一步研究。
