Identification of De Novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain

Overview

Journal Int J Med Sci

Specialty General Medicine

Date 2014 Aug 1

PMID 25076844

Citations 13

Authors

Susana Garcia

Tomas de Haro

Mercedes Zafra-Ceres

Antonio Poyatos

Jose A Gomez-Capilla

Carolina Gomez-Llorente

Affiliations

Soon will be listed here.

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.

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