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.
Lai
Shiao-Lin
SL
Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Abramzon
Yevgeniya
Y
Schymick
Jennifer C
JC
Stephan
Dietrich A
DA
Dunckley
Travis
T
Dillman
Allissa
A
Cookson
Mark
M
Calvo
Andrea
A
Battistini
Stefania
S
Giannini
Fabio
F
Caponnetto
Claudia
C
Mancardi
Giovanni Luigi
GL
Spataro
Rossella
R
Monsurro
Maria Rosaria
MR
Tedeschi
Gioacchino
G
Marinou
Kalliopi
K
Sabatelli
Mario
M
Conte
Amelia
A
Mandrioli
Jessica
J
Sola
Patrizia
P
Salvi
Fabrizio
F
Bartolomei
Ilaria
I
Lombardo
Federica
F
Mora
Gabriele
G
Restagno
Gabriella
G
Chiò
Adriano
A
Traynor
Bryan J
BJ
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