Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.
Mutations in the profilin 1 (PFN1) gene, encoding a member of the profilin family of small actin-binding proteins, have been recently reported in patients with familial amyotrophic lateral sclerosis (ALS). In this study we aimed to determine the prevalence of PFN1 mutations by sequencing the coding region of this gene in a cohort of 94 familial ALS patients from France and Quebec. No mutations were identified in our cohort suggesting that PFN1 gene mutations are a very rare cause of familial ALS among patients with predominantly European ancestry.
Centre of Excellence in Neuroscience of Université de Montréal, CHUM Research Center and the Department of Medicine, Université de Montréal, Montreal, Quebec, Canada.
Hussein
H
Daoud
Sylvia
S
Dobrzeniecka
William
W
Camu
Vincent
V
Meininger
Nicolas
N
Dupré
Patrick A
PA
Dion
Guy A
GA
Rouleau
D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D002170:Canada / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data; D005602:France / Q000453:epidemiology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D051304:Profilins / Q000235:genetics*; D012307:Risk Factors
D005819:Genetic Markers; C495738:PFN1 protein, human; D051304:Profilins