Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy using Multiplex Ligation-Dependent Probe Amplification in Rwandan Patients
| Autor: | Annette Uwineza, Seraphine Murorunkwere, Vinciane Dideberg, Janvier Hitayezu, Leon Mutesa, Jean-Hubert Caberg, Vincent Bours, Janvier Ndinkabandi, Celestin Kaputu Kalala Malu |
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| Rok vydání: | 2013 |
| Předmět: |
Male
musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Adolescent DNA Copy Number Variations Becker's muscular dystrophy DNA Mutational Analysis medicine.disease_cause Dystrophin Exon medicine Humans Genetic Testing Multiplex ligation-dependent probe amplification Copy-number variation Muscular dystrophy Child X-linked recessive inheritance Genetics Mutation biology business.industry Rwanda Exons medicine.disease Muscular Dystrophy Duchenne Phenotype Infectious Diseases Child Preschool Pediatrics Perinatology and Child Health biology.protein Female business Multiplex Polymerase Chain Reaction Gene Deletion |
| Zdroj: | Journal of Tropical Pediatrics. 60:112-117 |
| ISSN: | 1465-3664 0142-6338 |
| DOI: | 10.1093/tropej/fmt090 |
| Popis: | Duchenne and Becker muscular dystrophies are the most common clinical forms of muscular dystrophies. They are genetically X-linked diseases caused by a mutation in the dystrophin (DMD) gene. A genetic diagnosis was carried out in six Rwandan patients presenting a phenotype of Duchenne and Becker muscular dystrophies and six asymptomatic female carrier relatives using multiplex ligation-dependent probe amplification (MLPA). Our results revealed deletion of the exons 48-51 in one patient, an inherited deletion of the exons 8-21 in two brothers and a de novo deletion of the exons 46-50 in the fourth patient. No copy number variation was found in two patients. Only one female carrier presented exon deletion in the DMD gene. This is the first cohort of genetic analysis in Rwandan patients affected by Duchenne and Becker muscular dystrophies. This report confirmed that MLPA assay can be easily implemented in low-income countries. |
| Databáze: | OpenAIRE |
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