Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy using Multiplex Ligation-Dependent Probe Amplification in Rwandan Patients

作者：Uwineza Annette; Hitayezu Janvier; Murorunkwere Seraphine; Ndinkabandi Janvier; Malu Celestin Kaputu Kalala; Caberg Jean Hubert; Dideberg Vinciane; Bours Vincent; Mutesa Leon^*

来源：Journal of Tropical Pediatrics, 2014, 60(2): 112-117.

DOI：10.1093/tropej/fmt090

• Duchenne/Becker dystrophy
• MLPA analysis
• DMD/BMD genes
• Rwanda

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.

• 出版日期2014-4