title: A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
abstract: Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1% to 2% of apparently sporadic cases. We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.1561C>T, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.
authors.affiliation: ALS Center, Department of Neuroscience, University of Torino, Torino, Italy. achio@usa.net
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
authors.forename: Andrea
authors.initials: A
authors.lastname: Calvo
authors.forename: Cristina
authors.initials: C
authors.lastname: Moglia
authors.forename: Irene
authors.initials: I
authors.lastname: Ossola
authors.forename: Maura
authors.initials: M
authors.lastname: Brunetti
authors.forename: Luca
authors.initials: L
authors.lastname: Sbaiz
authors.forename: Shiao-lin
authors.initials: SL
authors.lastname: Lai
authors.forename: Yevgeniya
authors.initials: Y
authors.lastname: Abramzon
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D034702:RNA-Binding Protein FUS