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Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain

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...

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Detalles Bibliográficos
Autores principales: Garcia, Susana, de Haro, Tomás, Zafra-Ceres, Mercedes, Poyatos, Antonio, Gomez-Capilla, Jose A., Gomez-Llorente, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115237/
https://www.ncbi.nlm.nih.gov/pubmed/25076844
http://dx.doi.org/10.7150/ijms.8391
Descripción
Sumario: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.