Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China

作者：Pan, Chuzheng; Jiao, Bin; Xiao, Tingting; Hou, Lihua; Zhang, Weiwei; Liu, Xi; Xu, Jun; Tang, Beisha; Shen, Lu^*

来源：Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, 18(3-4): 265-268.

DOI：10.1080/21678421.2017.1293111

• Amyotrophic lateral sclerosis
• frontotemporal dementia
• CCNF gene

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.

• 出版日期2017
• 单位中南大学; 扬州大学