UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Human Mutation Année : 2012

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

Résumé

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 (R) 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 disease-causing mutations reported in the literature to date, and using the main bioinformatics tools offered in UMD-DYSF.
Fichier principal
Vignette du fichier
UMD-DYSF, A Novel Locus Specific Database for thebiff.pdf (274.09 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

hal-01610025 , version 1 (18-12-2017)

Identifiants

Citer

Gaëlle Blandin, Christophe Béroud, Veronique Labelle, Karine Nguyen, Nicolas Wein, et al.. UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Human Mutation, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩. ⟨hal-01610025⟩
123 Consultations
306 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More