Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

Abstract Mutations in the FUS gene have been recently associated with amyotrophic lateral sclerosis (ALS). While most of the variants have been identified in patients with a family history of the disease, a few mutations were also found in sporadic patients. Considering this, we wanted to evaluate t...

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Bibliographic Details
Published in:Amyotrophic lateral sclerosis 2011-03, Vol.12 (2), p.113-117
Main Authors: Belzil, Veronique V., Daoud, Hussein, St-Onge, Judith, Desjarlais, Anne, Bouchard, Jean-Pierre, Dupre, Nicolas, Lacomblez, Lucette, Salachas, François, Pradat, Pierre-François, Meininger, Vincent, Camu, William, Dion, Patrick A., Rouleau, Guy A.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - physiopathology
Animals
Base Sequence
Databases, Genetic
DNA Mutational Analysis
Exons
Female
FUS
Genetic Testing
Genetic Variation
genetics
Humans
Molecular Sequence Data
Mutation
RNA-binding protein
RNA-Binding Protein FUS - genetics
RNA-Binding Protein FUS - metabolism
Sequence Alignment
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Summary:Abstract Mutations in the FUS gene have been recently associated with amyotrophic lateral sclerosis (ALS). While most of the variants have been identified in patients with a family history of the disease, a few mutations were also found in sporadic patients. Considering this, we wanted to evaluate the frequency of mutations in the coding region of the FUS gene in a sporadic ALS (SALS) cohort compared to a control population. We tested 475 SALS cases of European origin and 475 matched controls for coding variations in the 15 exons of the FUS gene. Rare novel variants were identified in a total of five SALS patients: one missense, one deletion, one frameshift, and one nonsense substitution. Two of the four variants are located in the carboxy terminal of the protein where the previously reported variants were mostly clustered. In conclusion, FUS gene mutations are rare in SALS, with four new FUS variants identified in five different SALS cases. These findings will help evaluate the proportion of FUS variations in the SALS population, and to better understand its contributing role to ALS pathology.
ISSN:1748-2968
1471-180X
DOI:10.3109/17482968.2010.536840