The first two authors contributed equally to this work.
Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase†
Article first published online: 20 JAN 2009
© 2009 Wiley-Liss, Inc.
Special Issue: Focus on High-Resolution Melting Technology
Volume 30, Issue 6, pages 934–945, June 2009
How to Cite
Tuffery-Giraud, S., Béroud, C., Leturcq, F., Yaou, R. B., Hamroun, D., Michel-Calemard, L., Moizard, M.-P., Bernard, R., Cossée, M., Boisseau, P., Blayau, M., Creveaux, I., Guiochon-Mantel, A., de Martinville, B., Philippe, C., Monnier, N., Bieth, E., Van Kien, P. K., Desmet, F.-O., Humbertclaude, V., Kaplan, J.-C., Chelly, J. and Claustres, M. (2009), Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase. Hum. Mutat., 30: 934–945. doi: 10.1002/humu.20976
Communicated by Jurgen Horst
- Issue published online: 28 MAY 2009
- Article first published online: 20 JAN 2009
- Accepted manuscript online: 20 JAN 2009 12:00AM EST
- Manuscript Accepted: 23 DEC 2008
- Manuscript Received: 25 AUG 2008
- Duchenne muscular dystrophy;
UMD–DMD France is a knowledgebase developed through a multicenter academic effort to provide an up-to-date resource of curated information covering all identified mutations in patients with a dystrophinopathy. The current release includes 2,411 entries consisting in 2,084 independent mutational events identified in 2,046 male patients and 38 expressing females, which corresponds to an estimated number of 39 people per million with a genetic diagnosis of dystrophinopathy in France. Mutations consist in 1,404 large deletions, 215 large duplications, and 465 small rearrangements, of which 39.8% are nonsense mutations. The reading frame rule holds true for 96% of the DMD patients and 93% of the BMD patients. Quality control relies on the curation by four experts for the DMD gene and related diseases. Data on dystrophin and RNA analysis, phenotypic groups, and transmission are also available. About 24% of the mutations are de novo events. This national centralized resource will contribute to a greater understanding of prevalence of dystrophinopathies in France, and in particular, of the true frequency of BMD, which was found to be almost half (43%) that of DMD. UMD–DMD is a searchable anonymous database that includes numerous newly developed tools, which can benefit to all the scientific community interested in dystrophinopathies. Dedicated functions for genotype-based therapies allowed the prediction of a new multiexon skipping (del 45–53) potentially applicable to 53% of the deleted DMD patients. Finally, such a national database will prove to be useful to implement the international global DMD patients' registries under development. Hum Mutat 30:1–12, 2009. © 2009 Wiley-Liss, Inc.