title: 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.
authors.affiliation: Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
authors.forename: N
authors.initials: N
authors.lastname: Ticozzi
authors.forename: V
authors.initials: V
authors.lastname: Silani
authors.forename: A L
authors.initials: AL
authors.lastname: LeClerc
authors.forename: P
authors.initials: P
authors.lastname: Keagle
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.forename: A
authors.initials: A
authors.lastname: Ratti
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: T J
authors.initials: TJ
authors.lastname: Kwiatkowski
authors.forename: D M
authors.initials: DM
authors.lastname: McKenna-Yasek
authors.forename: P C
authors.initials: PC
authors.lastname: Sapp
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
authors.forename: J E
authors.initials: JE
authors.lastname: Landers
mesh_terms: 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*
chemical_list: D034702:RNA-Binding Protein FUS