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MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

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dc.contributor.author Guevara-Fujita, Maria Luisa
dc.contributor.author Huaman-Dianderas, Francia
dc.contributor.author Obispo, Daisy
dc.contributor.author Sanchez, Rodrigo
dc.contributor.author Barrenechea, Victor
dc.contributor.author Rojas-Malaga, Diana
dc.contributor.author Estrada-Cuzcano, Alejandro
dc.contributor.author Trubnykova, Milana
dc.contributor.author Cornejo-Olivas, Mario
dc.contributor.author Marca, Victoria
dc.contributor.author Gallardo, Bertha
dc.contributor.author Duenas-Roque, Milagros
dc.contributor.author Protzel, Ana
dc.contributor.author Castaneda, Carlos
dc.contributor.author Abarca, Hugo
dc.contributor.author Celis, Luis
dc.contributor.author La Serna-Infantes, Jorge
dc.contributor.author Fujita, Ricardo
dc.date.accessioned 2021-10-04T23:00:59Z
dc.date.available 2021-10-04T23:00:59Z
dc.date.issued 2021
dc.identifier.uri https://hdl.handle.net/20.500.12866/9852
dc.description.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 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 en_US
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartofseries Molecular Genetics & Genomic Medicine
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Becker muscular dystrophy en_US
dc.subject Duchenne muscular dystrophy en_US
dc.subject molecular diagnosis en_US
dc.subject multiple ligation probe amplification en_US
dc.subject targeted Next Generation Sequencing en_US
dc.title MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1002/mgg3.1759
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.relation.issn 2324-9269


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