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Title: | Large Genomic Imbalances in Brugada Syndrome |
Author: | Mademont Soler, Irene Pinsach Abuin, Mel·lina Riuró Cáceres, Helena Matés Ramírez, Jesús Pérez Serra, Alexandra Coll, Mònica Porres, José M. Olmo, Bernat del Iglesias, Anna Selga i Coma, Elisabet Picó, Ferran Pagans i Lista, Sara Ferrer Costa, Carles Sarquella Brugada, Georgia Arbelo, Elena Cesar, Sergi Brugada Terradellas, Josep, 1958- Campuzano, Òscar Brugada, Ramon |
Keywords: | Mort sobtada Arrítmia Genòmica Sudden death Arrhythmia Genomics |
Issue Date: | 29-Sep-2016 |
Publisher: | Public Library of Science (PLoS) |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0163514.eCollection2016. |
It is part of: | PLoS One, 2016, vol. 11, num. 9, p. e0163514 |
URI: | http://hdl.handle.net/2445/113710 |
Related resource: | https://doi.org/10.1371/journal.pone.0163514.eCollection2016. |
ISSN: | 1932-6203 |
Appears in Collections: | Articles publicats en revistes (Medicina) |
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