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 |
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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 |
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dc.relation.issn |
2324-9269 |
|