Large Genomic Imbalances in Brugada Syndrome.

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 duplicatio

SUBMITTER: Mademont-Soler I 

PROVIDER: S-EPMC5042553 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature