Mademont Soler, IrenePinsach Abuin, Mel·linaRiuró Cáceres, HelenaMatés Ramírez, JesúsPérez Serra, AlexandraColl, MònicaPorres, José M.Olmo, Bernat delIglesias, AnnaSelga i Coma, ElisabetPicó, FerranPagans i Lista, SaraFerrer Costa, CarlesSarquella Brugada, GeorgiaArbelo, ElenaCésar Diaz, SergioBrugada Terradellas, Josep, 1958-Campuzano Larrea, OscarBrugada, Ramon2017-07-122017-07-122016-09-291932-6203https://hdl.handle.net/2445/113710Purpose 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.11 p.application/pdfengcc-by (c) Mademont Soler, Irene et al., 2016http://creativecommons.org/licenses/by/3.0/esMort sobtadaArrítmiaGenòmicaSudden deathArrhythmiaGenomicsinfo:eu-repo/semantics/article6721722017-07-12info:eu-repo/semantics/openAccess27684715