DCTN1 Gene Analysis in Chinese Patients with Sporadic Amyotrophic Lateral Sclerosis

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2017 Aug 10

PMID 28792508

Citations 15

Authors

Xiangyi Liu

Lipeng Yang

Lu Tang

Lu Chen

Xiaolu Liu

Dongsheng Fan

Affiliations

Soon will be listed here.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Missense mutations of DCTN1 have been identified as a possible genetic risk factor for ALS. Here, we tested the DCTN1 protein-coding exons in 510 sporadic ALS patients in whom SOD1, TARDBP, FUS, and C9orf72 genes were screened before. Polymerase chain reaction and Sanger sequencing were used for mutation discovery. The results revealed two rare heterozygous missense variants, c.1867C>T (p.R623W) and c.2798C>T (p.A933V). These two patients exhibited spinal disease onset without cognitive impairment, and their onset age and diagnosis delay was within the average range of Chinese ALS patients. Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic ALS and that the frequency of variants of unknown significance in the cohort study was 0.39%.

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