在来自中国大陆的肌萎缩侧索硬化症和额颞叶痴呆患者中，CCNF基因突变很少见。
Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China.
作者信息
Pan Chuzheng, Jiao Bin, Xiao Tingting, Hou Lihua, Zhang Weiwei, Liu Xi, Xu Jun, Tang Beisha, Shen Lu
机构信息
a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
d Department of Neurology , Brain Centre, Neurological Institute, Northern Jiangsu Province Hospital , Yangzhou , China , and.
出版信息
Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):265-268. doi: 10.1080/21678421.2017.1293111. Epub 2017 Mar 10.
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.
目的
最近在西方和日本人群中发现细胞周期蛋白F（CCNF）基因突变与肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）有关。在这些不同地理区域人群的ALS和FTD中，罕见的蛋白质改变变体频率为0.6%至3.3%，而在中国人群中尚未对CCNF变体进行系统分析。
方法
我们使用桑格测序法对来自中国大陆的269例患者（包括181例ALS和88例FTD）的CCNF所有外显子进行了筛查。
结果
在1例散发型ALS病例中检测到1种罕见的杂合变体（c.481G＞A，p.G161R），频率为0.6%，而在FTD患者中未发现突变。在1例来自美国的散发型ALS患者中也发现了相同的变体。
结论
我们的结果表明，CCNF突变在中国大陆的ALS和FTD患者中较为罕见。
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