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

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Neurology (Impact Factor: 8.3). 10/2009; 73(15):1180-5. DOI: 10.1212/WNL.0b013e3181bbff05
Source: PubMed

ABSTRACT 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.
We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS.
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.
Our results demonstrate that FUS mutations cause approximately 4% of familial amyotrophic lateral sclerosis cases in the Italian population.

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