Large Genomic Imbalances in Brugada Syndrome

• DOI: 10.1371/journal.pone.0163514
• Publication Date: 2016-09-29T16:24:44Z
• Authors: Irene Mademont-Soler; Mel·lina Pinsach-...; Helena Riuró; Jesus Mates; Alexandra Pérez-S...; Mònica Coll; José Manuel Porres; Bernat del Olmo; Anna Iglesias; Elisabet Selga; Ferran Picó; Sara Pagans; Carles Ferrer-Costa; Geòrgia Sarquella...; Elena Arbelo; Sergi Cesar; Josep Brugada; Óscar Campuzano; Ramon Brugada
• Keywords: Indel; Segmental duplication

Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden death. The recommended genetic testing (direct sequencing SCN5A) uncovers disease-causing SNVs and/or indels in ~20% cases. Limited information exists about the frequency copy number variants (CNVs) SCN5A BrS patients, and role CNVs BrS-minor genes completely unexplored field.220 patients with negative results were studied detect SCN5A. 63 cases also screened for genes. Studies performed by Multiplex ligation-dependent probe amplification or Next-Generation Sequencing (NGS).The detection rate was 0.45% (1/220). detected imbalance consisted duplication from exon 15 28, could potentially explain phenotype. No found genes.CNVs current BrS-related are uncommon among patients. However, as these rearrangements underlie portion they undergo unnoticed traditional sequencing, an appealing alternative conventional studies be targeted NGS, including single experiment study SNVs, all known