Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase - Aix-Marseille Université Access content directly
Journal Articles Human Mutation Year : 2009

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

France Tuffery-Giraud
  • Function : Author
Rabah Ben Yaou
  • Function : Author
Dalil Hamroun
Pierre Moizard
  • Function : Author
Mireille Cossée
Bérengère de Martinville
  • Function : Author
Philippe Philippe
  • Function : Author
Christophe Philippe
  • Function : Author
  • PersonId : 761163
  • IdRef : 083945237

Abstract

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.

Dates and versions

hal-01681838 , version 1 (11-01-2018)

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Cite

France Tuffery-Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, et al.. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Human Mutation, 2009, 30 (6), pp.934 - 945. ⟨10.1002/humu.20976⟩. ⟨hal-01681838⟩
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