Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

ABSTRACT:

Background

Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed "inherited primary arrhythmia syndromes" and "channelopathies", which lead to sudden cardiac death.

Methods

Detailed clinical information of Brs and LQTs patients was collected. Genomic DNA samples of peripheral blood were conducted for whole-exome sequencing on the Illumina HiSeq 2000 platform. Then, we performed bioinformatics analysis for 200 genes susceptible to arrhythmias and cardiomyopathies. Protein interaction and transcriptomic co-expression were analyzed using the online website and GTEx database.

Results

All sixteen cases of Brs and six cases of LQTs were enrolled in the current study. Four Brs carried known pathogenic or likely pathogenic of single-point mutations, includi

SUBMITTER: Chen J 

PROVIDER: S-EPMC9615250 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature