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Comprehensive genetic characterization of a Spanish Brugada Syndrome cohort

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dc.contributor.author Selga, Elisabet
dc.contributor.author Campuzano, Oscar
dc.contributor.author Pinsach-Abuin, Mellina
dc.contributor.author Pérez-Serra, Alexandra
dc.contributor.author Mademont-Soler, Irene
dc.contributor.author Riuró, Helena
dc.contributor.author Picó, Ferran
dc.contributor.author Coll, Mònica
dc.contributor.author Iglesias, Anna
dc.contributor.author Pagans, Sara
dc.contributor.author Sarquella-Brugada, Georgia
dc.contributor.author Berne, Paola
dc.contributor.author Benito Villabriga, Begoña
dc.contributor.author Brugada, Josep
dc.contributor.author Porres, José M.
dc.contributor.author López Zea, Matilde
dc.contributor.author Castro-Urda, Víctor
dc.contributor.author Fernández-Lozano, Ignacio
dc.contributor.author Brugada, Ramón
dc.date.accessioned 2015-10-07T08:39:21Z
dc.date.available 2015-10-07T08:39:21Z
dc.date.issued 2015
dc.identifier.citation Selga E, Campuzano O, Pinsach-Abuin ML, Pérez-Serra A, Mademont-Soler I, Riuró H. et al. Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. PLoS One. 2015 Jul 14;10(7):e0132888. doi: 10.1371/journal.pone.0132888.
dc.identifier.issn 1932-6203
dc.identifier.uri http://hdl.handle.net/10230/24811
dc.description.abstract BACKGROUND: Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and prevalence of genetic variations in a Spanish cohort diagnosed with BrS. METHODOLOGY/PRINCIPAL FINDINGS: We directly sequenced fourteen genes reported to be associated with BrS in 55 unrelated patients clinically diagnosed. Our genetic screening allowed the identification of 61 genetic variants. Of them, 20 potentially pathogenic variations were found in 18 of the 55 patients (32.7% of the patients, 83.3% males). Nineteen of them were located in SCN5A, and had either been previously reported as pathogenic variations or had a potentially pathogenic effect. Regarding the sequencing of the minority genes, we discovered a potentially pathogenic variation in SCN2B that was described to alter sodium current, and one nonsense variant of unknown significance in RANGRF. In addition, we also identified 40 single nucleotide variations which were either synonymous variants (four of them had not been reported yet) or common genetic variants. We next performed MLPA analysis of SCN5A for the 37 patients without an identified genetic variation, and no major rearrangements were detected. Additionally, we show that being at the 30-50 years range or exhibiting symptoms are factors for an increased potentially pathogenic variation discovery yield./nCONCLUSIONS: In summary, the present study is the first comprehensive genetic evaluation of 14 BrS-susceptibility genes and MLPA of SCN5A in a Spanish BrS cohort. The mean pathogenic variation discovery yield is higher than that described for other European BrS cohorts (32.7% vs 20-25%, respectively), and is even higher for patients in the 30-50 years age range.
dc.description.sponsorship This work was supported by Obra social “la Caixa” (www.obrasocial.lacaixa.es/), Centro Nacional de Investigaciones Cardiovasculares (CNIC-03-2008; www.cnic.es/), and Instituto de Salud Carlos III (FISPI08/1800 and Fondo Europeo de Desarrollo Regional; www.isciii.es/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Public Library of Science
dc.rights © 2015 Selga et al. This is an open access article distributed under the terms of the http://creativecommons.org/licenses/by/4.0/, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Genètica
dc.subject.other Síndromes
dc.subject.other Cor -- Malalties -- Aspectes genètics
dc.title Comprehensive genetic characterization of a Spanish Brugada Syndrome cohort
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0132888
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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