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...

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Bibliographic Details
Published in:Neurobiology of aging 2011-03, Vol.32 (3), p.555.e13-555.e14
Main Authors: Belzil, Véronique V, Daoud, Hussein, Desjarlais, Anne, Bouchard, Jean-Pierre, Dupré, Nicolas, Camu, William, Dion, Patrick A, Rouleau, Guy A
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
DNA Mutational Analysis - methods
European Continental Ancestry Group
Exons - genetics
Female
Genetic Predisposition to Disease - genetics
Genetics
Humans
Internal Medicine
Male
Mutation - genetics
Mutations
Neurology
OPTN
Transcription Factor TFIIIA - genetics
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Summary: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.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2010.10.001