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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis, Volume 12, No. 2, Year 2011
Notification
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Description
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. © 2011 Informa Healthcare.
Authors & Co-Authors
Daoud, Hussein
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
St.-Onge, Judith
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Dupré, Nicolas
Canada, Quebec
Université Laval
Lacomblez, Lucette
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Salachas, François
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Camu, William
France, Montpellier
Hopital Gui de Chauliac
Dion, Patrick A.
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Canada, Montreal
University of Montreal
Rouleau, Guy Armand
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Canada, Montreal
University of Montreal
Canada, Montreal
Chu Sainte-justine - le Centre Hospitalier Universitaire Mère-enfant
Statistics
Citations: 35
Authors: 9
Affiliations: 6
Identifiers
Doi:
10.3109/17482968.2010.536840
ISSN:
1471180X
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Cohort Study