Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.

ABSTRACT:

Background

The most prevalent cyanotic congenital heart disease (CHD) phenotype is tetralogy of Fallot (TOF). Rare genetic variations have been identified as significant risk factors for CHD. Thus, this research sought to identify the pathogenic variations and molecular etiologies of TOF.

Methods

This study employed whole-exome sequencing (WES) and Sanger sequencing to identify pathogenic variations in DNA samples from patients with TOF. The pathogenicity of the variations was predicted using an in-silico approach.

Results

We enrolled 17 patients with TOF in this study. Among these patients, 14 had mutations in TOF-related genes, including GJB2, TBX15, CTNS, SPINK1, GATA6, PRIMOL, GDF15, SLC17A9, AIFM1,

SUBMITTER: Pan Y 

PROVIDER: S-EPMC10644019 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature