Chuzheng Pan1, Bin Jiao1, Tingting Xiao1, Lihua Hou1, Weiwei Zhang1, Xi Liu1, Jun Xu2,3, Beisha Tang1,4,5, Lu Shen1,4,5. 1. a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China. 2. d Department of Neurology , Brain Centre, Neurological Institute, Northern Jiangsu Province Hospital , Yangzhou , China , and. 3. e Jiangsu Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Treatment of Senile Diseases, School of Medicine, Yangzhou University , Yangzhou , 225001 , China. 4. b Key Laboratory of Hunan Province in Neurodegenerative Disorders , Central South University , Changsha , China. 5. c State Key Laboratory of Medical Genetics , Changsha , 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.
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 ALSpatient from America. CONCLUSIONS: Our result indicates that the mutation of CCNF is rare in patients with ALS and FTD from Mainland China.