Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.
OBJECTIVE
Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS.


METHODS
We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS.


RESULTS
We identified 4 distinct missense mutations in 5 patients; 2 were novel. The mutations were not present in 376 healthy Italian controls and thus are likely to be pathogenic.


CONCLUSIONS
Our results demonstrate that FUS mutations cause approximately 4% of familial amyotrophic lateral sclerosis cases in the Italian population.
Ticozzi
N
N
Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Silani
V
V
LeClerc
A L
AL
Keagle
P
P
Gellera
C
C
Ratti
A
A
Taroni
F
F
Kwiatkowski
T J
TJ
McKenna-Yasek
D M
DM
Sapp
P C
PC
Brown
R H
RH
Landers
J E
JE
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D020125:Mutation, Missense; D010375:Pedigree; D034702:RNA-Binding Protein FUS / Q000235:genetics*
D034702:RNA-Binding Protein FUS