In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

ABSTRACT:

Background

Brugada syndrome (BrS) is a rare genetic disease that causes sudden cardiac death (SCD) and arrhythmia. SCN5A pathogenic variants (about 30% of diagnosed patients) are responsible for BrS.

Aims

Lack of knowledge regarding molecular characteristics and the correlation between genotype and phenotype interfere with the risk stratification and finding the optimal treatment in Vietnam. Therefore, we identified SCN5A variants and evaluated the genotype-phenotype correlation of BrS on 117 Vietnamese probands.

Materials and methods

The clinical characteristics and blood samples of BrS patients were collected. To determine SCN5A variants, Sanger sequencing was conducted, and subsequently, these variants were analyzed by bioinformatic tools.

Results

In this co

SUBMITTER: Pham HM 

PROVIDER: S-EPMC10724507 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature