DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB
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María Luisa. Guevara-Fujita1
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Francia Huaman-Dianderas1
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Daisy Obispo1
- Rodrigo Sánchez1
- Victor Barrenechea1
- Diana Rojas-Málaga2
- Alejandro Estrada-Cuzcano3
- Milana Trubnykova4
- Mario Cornejo-Olivas5
- Victoria Marca6
- Bertha Gallardo4
- Milagros Dueñas-Roque7
- Ana Protzel7
- Carlos Castañeda8
- Hugo Abarca4
- Luis Celis9
- Jorge La Serna- Infantes10
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Ricardo Fujita1
- 1. Centro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Peru.
- 2. Centro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Peru; Laboratório de Genética Molecular; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.
- 3. Centro de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres, Lima, Peru; Laboratório de Genética Molecular; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, IGMA, Faculté de Médecine FMTS, Université de Strasbourg, Strasbourg, France.
- 4. Servicio de Genética y Errores Innatos del Metabolismo del Instituto Nacional de Salud del Niño, Lima, Peru.
- 5. Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru; Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru.
- 6. Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
- 7. Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru.
- 8. Hospital Nacional Cayetano Heredia, Lima, Peru.
- 9. Servicio de Genética, Instituto de Salud del Niño San Borja, Lima, Peru.
- 10. GenoCenter, Lima, Peru.
Description
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.
