Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

ABSTRACT:

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.

SUBMITTER: Ticozzi N 

PROVIDER: S-EPMC2764725 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature