AUTHOR=Tian Danyang , Li Jiao , Tang Lu , Zhang Nan , Fan Dongsheng 

TITLE=Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort

JOURNAL=Frontiers in Aging Neuroscience

VOLUME=10

YEAR=2018

URL=https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2018.00185

DOI=10.3389/fnagi.2018.00185

ISSN=1663-4365

ABSTRACT=<p>Previous research has identified <italic>CCNF</italic> mutations in familial (FALS) and sporadic amyotrophic lateral sclerosis (SALS), as well as in frontotemporal dementia (FTD). The aim of our study was to measure the frequency of <italic>CCNF</italic> mutations in a Chinese population. In total, 78 FALS patients, 581 SALS patients and 584 controls were included. We found 19 missense mutations, nine synonymous mutations and two intron variants. According to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, eight variants were judged to be pathogenic or likely pathogenic variants. The frequency of such variants was 2.56% in FALS and 1.03% in SALS. In conclusion, <italic>CCNF</italic> mutations are common in FALS and SALS patients of Chinese origin, and further study is still needed.</p>