Eur J Med Genet
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. 2025 Nov 10:78:105059.
doi: 10.1016/j.ejmg.2025.105059. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/41224194/
Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report
John Howat 1, Trisha Vigneswaran 2, Aris Papageorghiou 3, Sahar Mansour 4
Affiliations Expand
- PMID: 41224194
- DOI: 10.1016/j.ejmg.2025.105059
Abstract
Pathogenic variants in GATA4, a transcription factor, are predominantly associated with congenital heart defects and gonadal abnormalities. We describe a case of a maternally inherited GATA4 pathogenic variant (c.474C > G p.[Tyr158Ter]) in a 21-week gestation fetus presenting with partial atrioventricular septal defect and congenital diaphragmatic hernia. Whilst there is a weight of evidence implicating GATA4 dysfunction in congenital diaphragmatic hernia, this is only the second report to our knowledge to identify a causative GATA4 variant with congenital diaphragmatic hernia.
Keywords: Congenital diaphragmatic hernia; Congenital heart disease; GATA4.
Copyright © 2025. Published by Elsevier Masson SAS.
