title: Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.
abstract: 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.
authors.affiliation: Center for Medical Genetics, Department of Molecular Biology & Cytogenetics, Faculty of Medicine, National University of Rwanda, PO Box 30-Butare, Rwanda.
authors.forename: Annette
authors.initials: A
authors.lastname: Uwineza
authors.forename: Janvier
authors.initials: J
authors.lastname: Hitayezu
authors.forename: Seraphine
authors.initials: S
authors.lastname: Murorunkwere
authors.forename: Janvier
authors.initials: J
authors.lastname: Ndinkabandi
authors.forename: Celestin Kaputu
authors.initials: CK
authors.lastname: Kalala Malu
authors.forename: Jean Hubert
authors.initials: JH
authors.lastname: Caberg
authors.forename: Vinciane
authors.initials: V
authors.lastname: Dideberg
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
authors.forename: Leon
authors.initials: L
authors.lastname: Mutesa
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012432:Rwanda
chemical_list: D016189:Dystrophin
keywords: DMD/BMD genes; Duchenne/Becker dystrophy; MLPA analysis; Rwanda