title: Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.
abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that arises from the progressive degeneration of the motor neurons. Recently, mutations in the matrin 3 (MATR3) gene were described in both ALS and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness. We sought to determine the prevalence of MATR3 mutations in Australian familial ALS (n = 106) using whole exome sequencing. No mutations were identified, indicating that MATR3 mutations are not a common cause of ALS in Australian familial cases with predominately European ancestry.
authors.affiliation: Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Fifita
authors.affiliation: Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
authors.forename: Kelly L
authors.initials: KL
authors.lastname: Williams
authors.affiliation: Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
authors.forename: Emily P
authors.initials: EP
authors.lastname: McCann
authors.affiliation: Digital Productivity, Commonwealth Scientific and Industrial Research Organization, Sydney, New South Wales, Australia.
authors.forename: Aidan
authors.initials: A
authors.lastname: O'Brien
authors.affiliation: Digital Productivity, Commonwealth Scientific and Industrial Research Organization, Sydney, New South Wales, Australia.
authors.forename: Denis C
authors.initials: DC
authors.lastname: Bauer
authors.affiliation: Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia.
authors.forename: Garth A
authors.initials: GA
authors.lastname: Nicholson
authors.affiliation: Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address: ian.blair@mq.edu.au.
authors.forename: Ian P
authors.initials: IP
authors.lastname: Blair
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001315:Australia; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D018450:Disease Progression; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation / Q000235:genetics*; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C518587:MATR3 protein, human; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins
keywords: Amyotrophic lateral sclerosis; Gene; Matrin 3; Mutation