Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

ABSTRACT: Background: Functional single ventricle (FSV) comprises a heterogeneous group of congenital heart diseases (CHDs) with severe and complex abnormalities. The multifactorial etiology of the disease poses challenges in identifying specific pathogenic factors and planning effective interventions and preventive treatments for patients. Methods: Whole-exome sequencing (WES) was performed to identify variants in relevant genes in 29 FSV patients from different families. Results: In total, 95 heterozygous variants across 48 CHD-associated genes were identified, including 85 missense, four small indel, one splicing, one stop gain, and four synonymous variants. Among them, 22 were novels, 11 conflicting, and four pathogenic variants. Each patient carried from two to six variants

SUBMITTER: Tu LT 

PROVIDER: S-EPMC12564189 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature