Background: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. Methods: We used the combination of multiplex ligation-dependent probe amplification (MLPA) and sequencing analysis of the DMD gene. We recruited Peruvian patients in 2 years from reference national hospitals. We performed DNA tests in 152 patients, checking first exon deletion/duplication by MLPA, and subsequently, if negative, samples were sequenced to detect point mutations. Results: The average age for diagnosis was 9.8 years, suggesting a delay for timely diagnosis and care. We found causal DMD mutations in 125 patients: 72 (57.6%) exon deletions/duplications (41.6% deletions, 16.0% duplications), and 53 (42.4%) point mutations (27.2% nonsense, 9.6% small indels, and 5.6% splice site). Conclusion: Due to our genetic background, we expected a higher number of novel and recurrent causal mutations in our sample. Results showed 16% of novel mutations, similar to other well-studied populations.
Bibliographical noteFunding Information:
The authors thank the participants and their relatives, the ADM-Peru, the physicians, including R. Y?bar, J. Toro, A. Tori, R. Capar?, S. Samalvides, G. Ch?vez, and M. Ch?vez, and others who helped with sample collection and clinical exams. They also thank PTC Therapeutics and authorities at the Facultad de Medicina, Universidad de San Mart?n de Porres, who helped fund this study.
© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC
- Becker muscular dystrophy
- Duchenne muscular dystrophy
- molecular diagnosis
- multiple ligation probe amplification
- targeted Next Generation Sequencing