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. CONCLUSIONS: MLPA combined with NGS was effective for detection of the mutations in dystrophin gene exons. Muscle Nerve 56: 117-121, 2017.