UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
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 disease-causing mutations reported in the literature to date, and using the main bioinformatics tools offered in UMD-DYSF.
Aix-Marseille Univ, UMR 910, Faculté de Médecine Timone, 13385, Marseille, France.
Gaelle
G
Blandin
Christophe
C
Beroud
Veronique
V
Labelle
Karine
K
Nguyen
Nicolas
N
Wein
Dalil
D
Hamroun
Brad
B
Williams
Nilah
N
Monnier
Laura E
LE
Rufibach
Jon Andoni
JA
Urtizberea
Pierre
P
Cau
Marc
M
Bartoli
Nicolas
N
Lévy
Martin
M
Krahn
D019295:Computational Biology; D030541:Databases, Genetic; D000073939:Dysferlin; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D012984:Software
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins