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

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.

Keywords:

• Amyotrophic lateral sclerosis
• frontotemporal dementia
• CCNF gene

Acknowledgements

The authors are grateful to all subjects for participation in our study. This study was supported through the National Natural Science Foundation of China (No. 81471295 to Lu Shen).

Declaration of interest

The authors report no actual or potential conflicts of interest.

Supplementary material available online