Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain
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AutorGarcía, Susana; Haro Muñoz, Tomás de; Zafra-Ceres, Mercedes; Poyatos, Antonio; Gómez Capilla, José Antonio
Ivysprin International Publisher
Duchénnè/BeckerMultiplex Ligation-dependent Probe Amplification (MLPA)De novo mutations
García, S.; et al. Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain. International Journal of Medical Sciences, 11(10): 988-933 (2014). [http://hdl.handle.net/10481/35280]
PatrocinadorCGLL has a postdoctoral fellowship from the Plan Propio of the University of Granada.
Background: Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible.Methods: Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives.Results: Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied.Conclusions: MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.