Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China
Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China
复制标题
中国大陆肌萎缩侧索硬化症和额颞叶痴呆患者CCNF基因突变罕见
DOI：
10.1080/21678421.2017.1293111
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发表时间：
2017-01-01
影响因子：
2.8
通讯作者：
Shen, Lu
中科院分区：
文献类型：
--
作者：
Pan, Chuzheng;Jiao, Bin;Shen, Lu
目的：最近确定的细胞周期蛋白F（CCNF）基因的突变与西方和日本人群中的肌萎缩性侧索硬化症（ALS）和额颞痴呆（FTD）有关。 ALS的稀有蛋白质改变变体频率为0.6至3.3％，来自这些不同地理种群的FTD，而在中国人群中未对CCNF变体进行系统分析。方法：我们在269例中筛选了CCNF的所有外显子（使用Sanger测序包括来自中国大陆的181个ALS和88 FTD）：一种罕见的杂合子在散发性ALS病例中检测到变体（c.481g> a，p.g161r），频率为0.6％，而FTD患者未发现突变。在美国的一名零星ALS患者中也发现了同样的变体。结论：我们的结果表明，在中国大陆的ALS和FTD患者中，CCNF的突变很少见。
Abstract Objective: Mutations of the cyclin F (CCNF) gene were recently identified to be associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Western and Japanese populations. The rare protein-altering variants frequency is 0.6 to 3.3% in ALS and FTD from these diverse geographic populations while no systematic analysis of CCNF variants were conducted in the Chinese population. Methods: We screened all exons of CCNF in a cohort of 269 cases (including 181 ALS and 88 FTD) from Mainland China using Sanger sequencing. Results: A rare heterozygous variant (c.481G > A, p.G161R) was detected in a sporadic ALS case with a frequency of 0.6%, while no mutation was identified in patients with FTD. The same variant was also found in a sporadic ALS patient from America. Conclusions: Our result indicates that the mutation of CCNF is rare in patients with ALS and FTD from Mainland China.