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Large Genomic Imbalances in Brugada Syndrome

2016; Public Library of Science; Volume: 11; Issue: 9 Linguagem: Inglês

10.1371/journal.pone.0163514

1932-6203

Irene Mademont‐Soler, Mel·lina Pinsach‐Abuin, Helena Riuró, Jesús Matés, Alexandra Pérez‐Serra, Mónica Coll, José Manuel Porres, Bernat del Olmo, Anna Iglesias, Elisabet Selga, Ferran Picó, Sara Pagans, Carles Ferrer‐Costa, Georgia Sarquella‐Brugada, Elena Arbelo, Sergi César, Josép Brugada, Òscar Campuzano, Ramón Brugada,

Viral Infections and Immunology Research

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.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).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.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.