DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB

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This record contains figures and tables related to the manuscript: "MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB". Abstract 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 a two-year period 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 of 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.

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