Universidad Peruana Cayetano Heredia
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.relation.issn | 2324-9269 |
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