| Résumé : | Communication N° 615 Introduction: Dystrophinopathies are the most frequent inherited muscular disorders caused by mutations of DMD gene encoding dystrophin. The 2 main corresponding conditions are Duchenne and Becker muscular dystrophies. We set up a DMD locus specific database (UMD-DMD), using UMD® (Universal Mutation Database) software. Objectives: 1) Set up a DMD locus specific database (UMD-DMD), including clinical and genetic characteristics of French individuals carrying DMD gene mutations; 2) Develop UMD® specific procedures for phenotype-genotype correlation, pathophysiologic and therapeutic projects in the field of dystrophinopathies. Methods: Molecular biologists, geneticists and clinical practitioner experts begun collecting data regarding patients carrying DMD gene mutations identified in "Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris". The same process is going on into a second centre "Laboratoire de Génétique Moléculaire et Chromosomique de Montpellier " also coordinating this project at the national level in collaboration with ten other French laboratories involved in the DMD gene screening. Clinical data will be progressively imported in the UMD-DMD database. Results: Over 1.000 patients carrying DMD gene mutation are indexed in UMD-DMD. Clinical data gathering is still in progress. Main difficulties are the absence or the scarcity of the clinical data for several patients. Increasing implication of the clinicians involved in patient's management is needed to reach a high quality data. Conclusion: In addition to a better comprehension of these affections, the UMD-DMD database will allow us to establish the clinical and genetic map of these diseases in France. Finally, the quality of these data will allow their exploitation in future therapeutic protocols regarding dystrophinopathies. |
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