FUS mutations in sporadic amyotrophic lateral sclerosis.
Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.
Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Shiao-Lin
SL
Lai
Yevgeniya
Y
Abramzon
Jennifer C
JC
Schymick
Dietrich A
DA
Stephan
Travis
T
Dunckley
Allissa
A
Dillman
Mark
M
Cookson
Andrea
A
Calvo
Stefania
S
Battistini
Fabio
F
Giannini
Claudia
C
Caponnetto
Giovanni Luigi
GL
Mancardi
Rossella
R
Spataro
Maria Rosaria
MR
Monsurro
Gioacchino
G
Tedeschi
Kalliopi
K
Marinou
Mario
M
Sabatelli
Amelia
A
Conte
Jessica
J
Mandrioli
Patrizia
P
Sola
Fabrizio
F
Salvi
Ilaria
I
Bartolomei
Federica
F
Lombardo
Gabriele
G
Mora
Gabriella
G
Restagno
Adriano
A
Chiò
Bryan J
BJ
Traynor
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D014481:United States; D055815:Young Adult
D034702:RNA-Binding Protein FUS