Structural and functional assessment of TBX20 gene variants in pediatric ventricular septal defect.

ABSTRACT:

Objective

This study aimed to investigate the potential role of TBX20 gene variants in the molecular pathogenesis of congenital ventricular septal defect (VSD) in pediatric patients.

Methods

Genetic sequencing and variant detection were performed for the TBX20 gene, a T-box transcription factor, in a cohort of 150 pediatric patients diagnosed with VSD, recruited from the Department of Cardiothoracic Surgery at Shanxi Children's Hospital. Functional characterization of newly identified variants was conducted using homology-based protein structural modeling, dual-luciferase reporter assays, and quantitative real-time polymerase chain reaction (qRT-PCR).

Results

Two variants within the highly conserved T-box DNA-binding domain were identified in five children: a synonymo

SUBMITTER: Qin Z 

PROVIDER: S-EPMC12323031 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature