Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

ABSTRACT:

Background

We examined the genetic background of a Chinese Han family in which some members presented with complex arrhythmias including sick sinus syndrome, progressive conduction block, atrial fibrillation, atrial standstill and Brugada syndrome. The possible underlying mechanism associated with the genetic mutation was explored.

Methods

Targeted capture sequencing was conducted in the probands in the coding and splicing regions of genes implicated in inherited arrhythmias. Stable cell lines overexpressing wild type (WT) or mutant SCN5A were generated in HEK293T cells. Whole-cell recording was performed to evaluate the functional changes in sodium channels.

Results

The rare heterozygous linkage mutations, SCN5A R965C and R1309H, were found in these patients with com

SUBMITTER: Lin Y 

PROVIDER: S-EPMC8172209 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature