TY - JOUR
T1 - Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis
AU - Belzil, Veronique V.
AU - Daoud, Hussein
AU - St-Onge, Judith
AU - Desjarlais, Anne
AU - Bouchard, Jean Pierre
AU - Dupre, Nicolas
AU - Lacomblez, Lucette
AU - Salachas, François
AU - Pradat, Pierre François
AU - Meininger, Vincent
AU - Camu, William
AU - Dion, Patrick A.
AU - Rouleau, Guy A.
N1 - Funding Information:
We would like to thank the patients involved in this study.We also thank M é lanie Benard, Isabelle Thiba-ult and Pierre Provencher for sample collection and organization, Cynthia Bourassa, Najib Nassani and Natalia Abian for technical support, and to acknowledge support from the Association pour la Recherche sur la Scl é rose Lat é rale Amyotrophique (ARS), the Canadian Institutes of Health Research, ALS Canada, the Association Fran ç aise contre les Myopathies (AFM), and the French Group on MND.
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Amyotrophic lateral sclerosis
KW - FUS
KW - RNA-binding protein
KW - genetics
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U2 - 10.3109/17482968.2010.536840
DO - 10.3109/17482968.2010.536840
M3 - Article
C2 - 21261515
AN - SCOPUS:79951740192
SN - 1748-2968
VL - 12
SP - 113
EP - 117
JO - Amyotrophic Lateral Sclerosis
JF - Amyotrophic Lateral Sclerosis
IS - 2
ER -