Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies

Introduction Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests. Results DNA rearrangements were detected in 65(70.65%) patients using MLPA. The deletions primarily clustered at exons 45–55, followed by exons 2–19. The duplication locations were in contrast to previous studies, which involved the 3' end of the gene. A total of 21 cases with point mutations were detected by NGS analysis. Furthermore, 6 previously unreported mutations were detected. Limb-girdle muscular dystrophy was confirmed in 2 patients after analysis with the muscle diseases panel. Discussion MLPA combined with NGS was effective for detection of the mutations in dystrophin gene exons. This article is protected by copyright. All rights reserved.