International Journal of Medical Sciences

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17 December 2017

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Int J Med Sci 2014; 11(10):988-993. doi:10.7150/ijms.8391

Research Paper

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

Susana Garcia1, Tomás de Haro1,2, Mercedes Zafra-Ceres1, Antonio Poyatos1, Jose A. Gomez-Capilla1,2,3, Carolina Gomez-Llorente4✉

1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain.
2. Instituto de Investigación Biosanitaria ibs. Granada, Spain.
3. Departamento de Bioquímica y Biología Molecular III e Inmunología. Facultad de Medicina. Universidad de Granada. Avd/ Madrid s/n 18071, Granada, Spain.
4. Departamento de Bioquímica y Biología Molecular II. Instituto de Nutrición y Tecnología de los Alimentos “José Mataix”. Centro de Investigaciones Biomédicas. Universidad de Granada. Avd/ Conocimiento s/n 18100 Armilla, Granada, Spain.

Abstract

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.

Keywords: Duchénnè/Becker, Multiplex Ligation-dependent Probe Amplification (MLPA), de novo mutations.

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How to cite this article:
Garcia S, de Haro T, Zafra-Ceres M, Poyatos A, Gomez-Capilla JA, Gomez-Llorente C. Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain. Int J Med Sci 2014; 11(10):988-993. doi:10.7150/ijms.8391. Available from http://www.medsci.org/v11p0988.htm