Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis

被引：45

作者：

Lin, Kon-Ping ^{[1
,2
]}

Tsai, Pei-Chien ^{[1
,3
]}

Liao, Yi-Chu ^{[1
,2
]}

Chen, Wei-Ting ^{[1
]}

Tsai, Ching-Piao ^{[1
,2
]}

Soong, Bing-Wen ^{[1
,2
,3
]}

Lee, Yi-Chung ^{[1
,2
,3
]}

机构：

[1] Taipei Vet Gen Hosp, Dept Neurol, Taipei 11217, Taiwan

[2] Natl Yang Ming Univ, Dept Neurol, Sch Med, Taipei 112, Taiwan

[3] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan

来源：

NEUROBIOLOGY OF AGING | 2015年 / 36卷 / 05期

关键词：

Amyotrophic lateral sclerosis; ALS; MATR3; Matrin-3; DOMINANT DISTAL MYOPATHY; PHARYNGEAL WEAKNESS; VOCAL CORD; PROTEIN; LOCALIZATION;

D O I：

10.1016/j.neurobiolaging.2015.02.008

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral sclerosis, and their role in amyotrophic lateral sclerosis (ALS) in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in MATR3 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of MATR3 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 169 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, and HNRNPA2B1 had been excluded. We identified 1 heterozygous missense mutation, p.Ala72Thr (c.214G>A), in 1 patient with bulbar-onset and apparently sporadic ALS. The frequency of MATR3 mutations in ALS patients in Taiwan is, therefore, approximately 0.5% (1 of 207). This study reports a novel MATR3 mutation and stresses on the importance to consider MATR3 mutation as a possible etiology of ALS. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：2005 / U31

页数：4

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