ArticleOrphanet journal of rare diseases2012
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
Article in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 58 citations in OpenAlex.
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- Identification and mechanism determination of the efflux pump subunit amrB gene mutations linked to gentamicin susceptibility in clinical Burkholderia pseudomallei from Malaysian Borneo.Molecular genetics and genomics : MGG · 2024Article
- In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.International journal of molecular sciences · 2023Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in theGenes · 2022Article
- Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?Orphanet journal of rare diseases · 2021Review
- Duchenne muscular dystrophy.Nature reviews. Disease primers · 2021Review
- A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across theJournal of personalized medicine · 2021Article
- Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.Journal of personalized medicine · 2020Article
- Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report.BMC medical genetics · 2020Article
- A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonicDisease models & mechanisms · 2020Article
- EMQN best practice guidelines for genetic testing in dystrophinopathies.European journal of human genetics : EJHG · 2020Article
- Review
- Article
- CRISPR-Induced Deletion with SaCas9 Restores Dystrophin Expression in Dystrophic Models In Vitro and In Vivo.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse.Molecular therapy. Nucleic acids · 2018Article
- MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.BMC medical genetics · 2017Article
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several exons and cause Duchenne (DMD) and Becker (BMD) muscular dystrophies. The most common DMD mutations are frameshift mutations resulting in an absence of dystrophin from tissues. In-frame DMD mutations are less frequent and result in a protein with partial wild-type dystrophin function. The aim of this study was to highlight structural and functional modifications of dystrophin caused by in-frame mutations. METHODS AND
resultsWe developed a dedicated database for dystrophin, the eDystrophin database. It contains 209 different non frame-shifting mutations found in 945 patients from a French cohort and previous studies. Bioinformatics tools provide models of the three-dimensional structure of the protein at deletion sites, making it possible to determine whether the mutated protein retains the typical filamentous structure of dystrophin. An analysis of the structure of mutated dystrophin molecules showed that hybrid repeats were reconstituted at the deletion site in some cases. These hybrid repeats harbored the typical triple coiled-coil structure of native repeats, which may be correlated with better function in muscle cells.
conclusionThis new database focuses on the dystrophin protein and its modification due to in-frame deletions in BMD patients. The observation of hybrid repeat reconstitution in some cases provides insight into phenotype-genotype correlations in dystrophin diseases and possible strategies for gene therapy. The eDystrophin database is freely available: http://edystrophin.genouest.org/.
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