Large Genomic Imbalances in Brugada Syndrome.
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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.
SUBMITTER: Mademont-Soler I
PROVIDER: S-EPMC5042553 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
Large Genomic Imbalances in Brugada Syndrome.
Mademont-Soler Irene I Pinsach-Abuin Mel Lina ML Riuró Helena H Mates Jesus J Pérez-Serra Alexandra A Coll Mònica M Porres José Manuel JM Del Olmo Bernat B Iglesias Anna A Selga Elisabet E Picó Ferran F Pagans Sara S Ferrer-Costa Carles C Sarquella-Brugada Geòrgia G Arbelo Elena E Cesar Sergi S Brugada Josep J Campuzano Óscar Ó Brugada Ramon R
PloS one 20160929 9
<h4>Purpose</h4>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.<h4>Methods</h4>220 BrS patients with negative genetic results were studied to detect CNV ...[more]
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Project description: Not available
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