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UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

✍ Scribed by Gaelle Blandin; Christophe Beroud; Veronique Labelle; Karine Nguyen; Nicolas Wein; Dalil Hamroun; Brad Williams; Nilah Monnier; Laura E. Rufibach; Jon Andoni Urtizberea; Pierre Cau; Marc Bartoli; Nicolas Lévy; Martin Krahn

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
150 KB
Volume
33
Category
Article
ISSN
1059-7794

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✦ Synopsis

Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders. As a step towards a better understanding of the DYSF mutational spectrum, and towards possible inclusion of patients in future therapeutic clinical trials, we set up the Universal Mutation Database for Dysferlin (UMD-DYSF), a Locus-Specific Database developed with the UMD® software. The main objective of UMD-DYSF is to provide an updated compilation of mutational data and relevant interactive tools for the analysis of DYSF sequence variants, for diagnostic and research purposes. In particular, specific algorithms can facilitate the interpretation of newly identified intronic, missense-or isosemantic-exonic sequence variants, a problem encountered recurrently during genetic diagnosis in dysferlinopathies. UMD-DYSF v1.0 is freely accessible at www.umd.be/DYSF/. It contains a total of 742 mutational entries corresponding to 266 different disease-causing mutations identified in 558 patients worldwide diagnosed with dysferlinopathy. This article presents for the first time a comprehensive analysis of the dysferlin mutational spectrum based on all compiled DYSF diseasecausing mutations reported in the literature to date, and using the main bioinformatics tools offered in UMD-DYSF.

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