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http://hdl.handle.net/2445/113710
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DC Field | Value | Language |
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dc.contributor.author | Mademont Soler, Irene | - |
dc.contributor.author | Pinsach Abuin, Mel·lina | - |
dc.contributor.author | Riuró Cáceres, Helena | - |
dc.contributor.author | Matés Ramírez, Jesús | - |
dc.contributor.author | Pérez Serra, Alexandra | - |
dc.contributor.author | Coll, Mònica | - |
dc.contributor.author | Porres, José M. | - |
dc.contributor.author | Olmo, Bernat del | - |
dc.contributor.author | Iglesias, Anna | - |
dc.contributor.author | Selga i Coma, Elisabet | - |
dc.contributor.author | Picó, Ferran | - |
dc.contributor.author | Pagans i Lista, Sara | - |
dc.contributor.author | Ferrer Costa, Carles | - |
dc.contributor.author | Sarquella Brugada, Georgia | - |
dc.contributor.author | Arbelo, Elena | - |
dc.contributor.author | Cesar, Sergi | - |
dc.contributor.author | Brugada Terradellas, Josep, 1958- | - |
dc.contributor.author | Campuzano, Òscar | - |
dc.contributor.author | Brugada, Ramon | - |
dc.date.accessioned | 2017-07-12T11:29:37Z | - |
dc.date.available | 2017-07-12T11:29:37Z | - |
dc.date.issued | 2016-09-29 | - |
dc.identifier.issn | 1932-6203 | - |
dc.identifier.uri | http://hdl.handle.net/2445/113710 | - |
dc.description.abstract | Purpose Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about the frequency of copy number variants (CNVs) in SCN5A in BrS patients, and the role of CNVs in BrS-minor genes is a completely unexplored field. Methods 220 BrS patients with negative genetic results were studied to detect CNVs in SCN5A. 63 cases were also screened for CNVs in BrS-minor genes. Studies were performed by Multiplex ligation-dependent probe amplification or Next-Generation Sequencing (NGS). Results The detection rate for CNVs in SCN5A was 0.45% (1/220). The detected imbalance consisted of a duplication from exon 15 to exon 28, and could potentially explain the BrS phenotype. No CNVs were found in BrS-minor genes. Conclusion CNVs in current BrS-related genes are uncommon among BrS patients. However, as these rearrangements may underlie a portion of cases and they undergo unnoticed by traditional sequencing, an appealing alternative to conventional studies in these patients could be targeted NGS, including in a single experiment the study of SNVs, indels and CNVs in all the known BrS-related genes. | - |
dc.format.extent | 11 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Public Library of Science (PLoS) | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0163514.eCollection2016. | - |
dc.relation.ispartof | PLoS One, 2016, vol. 11, num. 9, p. e0163514 | - |
dc.relation.uri | https://doi.org/10.1371/journal.pone.0163514.eCollection2016. | - |
dc.rights | cc-by (c) Mademont Soler, Irene et al., 2016 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Mort sobtada | - |
dc.subject.classification | Arrítmia | - |
dc.subject.classification | Genòmica | - |
dc.subject.other | Sudden death | - |
dc.subject.other | Arrhythmia | - |
dc.subject.other | Genomics | - |
dc.title | Large Genomic Imbalances in Brugada Syndrome | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 672172 | - |
dc.date.updated | 2017-07-12T11:29:37Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 27684715 | - |
Appears in Collections: | Articles publicats en revistes (Medicina) |
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672172.pdf | 2 MB | Adobe PDF | View/Open |
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