# Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis

## TL;DR

A new GATA4 gene variant is linked to heart defects in a family, suggesting a genetic cause for congenital heart disease.

## Contribution

A novel GATA4 missense variant (p.Gly303Trp) is identified in a family with septal heart defects and pulmonary stenosis.

## Key findings

- A novel GATA4 variant (p.Gly303Trp) was found in a family with CHD.
- The proband had VSD and pulmonary stenosis, with a family history of similar heart defects.
- The variant suggests a possible familial inheritance pattern of CHD.

## Abstract

Congenital heart disease (CHD) represents a prevalent group of structural cardiac anomalies often associated with alterations in key transcription factors including NKX2-5, TBX5, and, particularly, GATA4. GATA4 is a zinc finger transcription factor essential for regulating genes involved in cardiogenesis. Here, we report the identification of a novel heterozygous missense variant in GATA4 (NM_002052.5:c.907G>T, p.Gly303Trp) in a family with a history of CHD. The proband, exhibiting ventricular septal defect (VSD) and pulmonary stenosis, was referred for genetic evaluation after recurrent spontaneous abortions occurred in their partner. In addition, the mother of the proband has a history of atrial septal defect (ASD) with pulmonary stenosis, which suggests a familial inheritance pattern.