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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
Sudden death
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.
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It is part of: PLoS One, 2016, vol. 11, num. 9, p. e0163514
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Medicina)

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