title: MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis.
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.
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Lianping
authors.initials: L
authors.lastname: Xu
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Jiao
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Tang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China. Electronic address: dsfan2010@aliyun.com.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Fan
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D015331:Cohort Studies; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012306:Risk
chemical_list: C518587:MATR3 protein, human; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins
keywords: Amyotrophic lateral sclerosis; Chinese population; MATR3 gene; Novel mutation