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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
Open accessAbstract
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.
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Duan, D., Goemans, N., Takeda, S., Mercuri, E., & Aartsma-Rus, A. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-021-00248-3 · Cited by 1,312
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Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
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Mollanoori, H., Rahmati, Y., Hassani, B., Havasi Mehr, M., & Teimourian, S. (2021) · Genes & Diseases · doi:10.1016/j.gendis.2019.12.007 · Cited by 32
Metadata
- Authors
- 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., & Claustres, M.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2009-06
- Volume
- 30
- Issue
- 6
- Pages
- 934-945
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1966340852
- Cited by
- 377
- References
- 52
- FWCI
- 6.12
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. https://app.cochat.ai/papers/10.1002/humu.20976
- The paper
- 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., . . . Claustres, M. (2009). Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Human Mutation. https://doi.org/10.1002/humu.20976
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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