Résumé :
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The compilation of mutational and clinical data from patients affected with dysferlinopathy is an essential step towards a better understanding of the natural course of this disease, and possible inclusion in future therapeutic clinical trials. As the French national reference centre for molecular diagnosis of primary dysferlinopathies, we developed the Universal Mutation Database for Dysferlin (UMD-DYSF, in collaboration with Christophe Beroud, Montpellier, France). The main objective of this Locus- Specific Database is the compilation and interactive analysis of mutational data. The database includes bioinformatics tools which allow for the statistical analysis of mutational data. Being confronted to the recurrent problematic of interpreting newly identified intronic, missense- or isosemantic-exonic sequence variants, we integrated in UMD-DYSF specific algorithms for the prediction of a pathogenicity score, which makes this database a valuable bioinformatics support for genetic diagnosis in primary dysferlinopathies. In its current version (January, 2011), the database includes 742 entries corresponding to 266 different disease-causing mutations identified in 558 patients worldwide, with direct links to the corresponding publications. Online availability is planned for 2011 following current finalization of UMD-DYSF, supported by the Association Franse contre les Myopathies and the Jain Foundation. Being integrated in the Natural History of Dysferlinopathies project, supported by the Jain Foundation, current developments aim to further expand UMD-DYSF to reach the status of an international patient registry according to the guidelines of TREAT-NMD, including regular updates by patients/physicians on the clinical status of patients with genetically confirmed dysferlinopathy.
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