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Association of GATA4 Gene Variants with Congenital Heart Disease: A Case-control Study

Jwalant Eknath Waghmare1, Prafulla S Ambulkar2, Tejas Tajne2

  • 1Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India.

Annals of African Medicine
|July 23, 2026
PubMed

Insights

This study identified three novel GATA4 gene variants in children with congenital heart defects (CHD). These variants may increase the risk of developing CHD, highlighting the importance of genetic evaluation in affected children.

Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Congenital heart defects (CHD) are common birth defects impacting infant life expectancy.
  • Nonsyndromic CHDs present severe clinical phenotypes, often with limited survival.
  • Population-level evaluation of genes associated with CHD is crucial for assessing severity and guiding treatment.

Purpose of the Study:

  • To investigate GATA4 gene variants in children with sporadic congenital heart defects.
  • To evaluate the potential disease-causing effects of identified variants using in silico analyses.
  • To assess the association of GATA4 variants with CHD in a rural population.

Main Methods:

  • Blood samples from 40 children with nonsyndromic CHD were analyzed.
  • Genotyping of exon 4 of the GATA4 gene was performed using Sanger sequencing.
  • In silico tools (Mutation Taster, PolyPhen2, etc.) predicted the pathogenicity of detected variants.

Main Results:

  • Three novel missense variants in GATA4 exon 4 were identified: E287K, G296A, and K300R.
  • In silico analyses predicted these variants to be potentially deleterious.
  • The identified variants are likely associated with CHD in the pediatric population studied.

Conclusions:

  • This study reports three novel GATA4 variants in exon 4 for the first time.
  • These variants may represent potential risk factors for congenital heart defect development.
  • Further research is warranted to elucidate the precise role of these variants in CHD pathogenesis.
Abstract

Keywords:
Cardiopathie congénitaleCongenital heart diseaseExonic variantsgenotypinggénotypagevariants exoniques

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