Screening for Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort

Overview

Journal Front Aging Neurosci

Specialty Geriatrics

Date 2018 Jul 17

PMID 30008669

Citations 3

Authors

Danyang Tian

Jiao Li

Lu Tang

Nan Zhang

Dongsheng Fan

Affiliations

Soon will be listed here.

Abstract

Previous research has identified 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 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, mutations are common in FALS and SALS patients of Chinese origin, and further study is still needed.

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