title: Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.
abstract: Mutations in the OPTN gene are well known to be associated with the development of glaucoma. Recently, unique variations in the same gene have been reported in familial and sporadic Japanese cases of amyotrophic lateral sclerosis (ALS). We set out to evaluate the frequency of OPTN mutations in a sample of our familial and sporadic ALS cohorts. All coding exons of the OPTN gene were amplified and sequenced in 95 unrelated familial ALS (FALS) and 95 sporadic ALS (SALS) cases of European descent. Two variants were newly identified in 2 individual FALS cases. Unique variations in the OPTN gene are rare in FALS cases and were not identified in any SALS patients, all of European descent.
authors.affiliation: Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada.
authors.forename: Véronique V
authors.initials: VV
authors.lastname: Belzil
authors.forename: Hussein
authors.initials: H
authors.lastname: Daoud
authors.forename: Anne
authors.initials: A
authors.lastname: Desjarlais
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation / Q000235:genetics*; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D044465:White People
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA