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. 2009 Oct 13;73(15):1176-9.
doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9.

Mutations in FUS cause FALS and SALS in French and French Canadian populations

V V Belzil  1 , P N Valdmanis, P A Dion, H Daoud, E Kabashi, A Noreau, J Gauthier; S2D team; P Hince, A Desjarlais, J-P Bouchard, L Lacomblez, F Salachas, P-F Pradat, W Camu, V Meininger, N Dupré, G A Rouleau
Affiliations

Mutations in FUS cause FALS and SALS in French and French Canadian populations

V V Belzil et al. Neurology. .

Abstract

Background: The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease.

Methods: To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported.

Results: In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS.

Conclusions: Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis.

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Figures

None
Figure Sequence traces and position of mutations in FUS (A) Sequence trace for the wild-type allele is presented over top of the sequence of the mutated allele. The amino acid that is changed is listed below. (B) Schematic (not to scale) of the FUS gene. Dots represent the exons in which mutations were identified. In the lower panel, the amino acid position of the mutations is indicated by the arrows. The position of the RNA-recognition motif (RRM) is also highlighted in green.
See this image and copyright information in PMC

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References

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