title: Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China.
abstract: 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.
  
  
  
  We screened all exons of CCNF in a cohort of 269 cases (including 181 ALS and 88 FTD) from Mainland China using Sanger sequencing.
  
  
  
  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.
  
  
  
  Our result indicates that the mutation of CCNF is rare in patients with ALS and FTD from Mainland China.
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
authors.forename: Chuzheng
authors.initials: C
authors.lastname: Pan
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
authors.forename: Bin
authors.initials: B
authors.lastname: Jiao
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Xiao
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Hou
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
authors.forename: Weiwei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.
authors.forename: Xi
authors.initials: X
authors.lastname: Liu
authors.affiliation: d Department of Neurology , Brain Centre, Neurological Institute, Northern Jiangsu Province Hospital , Yangzhou , China , and.|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.
authors.forename: Jun
authors.initials: J
authors.lastname: Xu
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.|b Key Laboratory of Hunan Province in Neurodegenerative Disorders , Central South University , Changsha , China.|c State Key Laboratory of Medical Genetics , Changsha , China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: a Department of Neurology , Xiangya Hospital, Central South University , Changsha , China.|b Key Laboratory of Hunan Province in Neurodegenerative Disorders , Central South University , Changsha , China.|c State Key Laboratory of Medical Genetics , Changsha , China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D044466:Asian People; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D016213:Cyclins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D057180:Frontotemporal Dementia / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: C503669:CCNF protein, human; D016213:Cyclins; D004247:DNA
keywords: Amyotrophic lateral sclerosis; CCNF gene; frontotemporal dementia