MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis

Lianping Xu; Jiao Li; Lu Tang; Nan Zhang; Dongsheng Fan

doi:10.1016/j.neurobiolaging.2015.11.023

MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis

Neurobiol Aging. 2016 Feb:38:218.e3-218.e4. doi: 10.1016/j.neurobiolaging.2015.11.023. Epub 2015 Dec 8.

Authors

Lianping Xu¹, Jiao Li¹, Lu Tang¹, Nan Zhang¹, Dongsheng Fan²

Affiliations

¹ Department of Neurology, Peking University Third Hospital, Beijing, China.
² Department of Neurology, Peking University Third Hospital, Beijing, China. Electronic address: dsfan2010@aliyun.com.

PMID: 26708275
DOI: 10.1016/j.neurobiolaging.2015.11.023

Abstract

Several recent studies have reported that the MATR3 gene is associated with the risk of amyotrophic lateral sclerosis (ALS). We sequenced the MATR3 gene in 509 unrelated Chinese sporadic ALS patients and 560 control subjects. We identified a novel missense mutation p.Ser610Phe in one patient. We also detected 3 missense variants (p.Ala313Gly, p.Arg147Lys, and p.Gln347Lys) in 3 of the 560 healthy controls. Our results suggest that MATR3 may not be a common genetic factor in Chinese ALS patients.

Keywords: Amyotrophic lateral sclerosis; Chinese population; MATR3 gene; Novel mutation.

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Asian People / genetics
Cohort Studies
Genetic Association Studies*
Humans
Mutation / genetics*
Mutation, Missense
Nuclear Matrix-Associated Proteins / genetics*
RNA-Binding Proteins / genetics*
Risk

Substances

MATR3 protein, human
Nuclear Matrix-Associated Proteins
RNA-Binding Proteins