A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.
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.
Chiò
Adriano
A
ALS Center, Department of Neuroscience, University of Torino, Torino, Italy. achio@usa.net
Calvo
Andrea
A
Moglia
Cristina
C
Ossola
Irene
I
Brunetti
Maura
M
Sbaiz
Luca
L
Lai
Shiao-lin
SL
Abramzon
Yevgeniya
Y
Traynor
Bryan J
BJ
Restagno
Gabriella
G
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*
D034702:RNA-Binding Protein FUS