Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis

Neurobiology of Aging
Kon-Ping LinYi-Chung Lee

Abstract

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.

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Citations

Feb 24, 2016·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·F HanischM Kornhuber
Jan 26, 2016·Neurobiology of Aging·Pei-Chien TsaiYi-Chung Lee
Oct 24, 2015·Neurobiology of Aging·Claire S LeblondGuy A Rouleau
Jan 19, 2016·Brain Pathology·Mario SabatelliSerena Lattante
Jul 23, 2015·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Paola OrigonePaola Mandich
Aug 19, 2016·Current Opinion in Neurology·Matthew A White, Jemeen Sreedharan
May 29, 2020·Annals of Clinical and Translational Neurology·Yu-Shuen TsaiYi-Chung Lee
Aug 20, 2020·Acta Neuropathologica Communications·Nandini RameshUdai Bhan Pandey
Jun 6, 2018·Frontiers in Neuroscience·Maria D Purice, J Paul Taylor
Apr 26, 2019·Laboratory Investigation; a Journal of Technical Methods and Pathology·M Carolina Gallego-IradiDavid R Borchelt
Jan 12, 2021·JCI Insight·Ahmed M Malik, Sami J Barmada
Nov 5, 2020·Muscle & Nerve·Manisha K KorbTahseen Mozaffar
Aug 13, 2021·Neural Regeneration Research·Caroline Ward, Udai Bhan Pandey

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