1. Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.
- Author
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Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, and Landers JE
- Subjects
- Base Sequence, Chromosomes, Human, Pair 16 genetics, Cohort Studies, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Italy, Male, Middle Aged, Models, Genetic, Mutation, Missense, Pedigree, Amyotrophic Lateral Sclerosis genetics, RNA-Binding Protein FUS genetics
- 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.
- Published
- 2009
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