Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report

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Howat, J; Vigneswaran, T; Papageorghiou, A; Mansour, S (2025) Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report. European Journal of Medical Genetics, 78. p. 105059. ISSN 1769-7212 https://doi.org/10.1016/j.ejmg.2025.105059
SGUL Authors: Mansour, Sahar

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Official URL: https://doi.org/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.

Item Type:

Article

Additional Information:

Keywords:

Congenital diaphragmatic hernia, Congenital heart disease, GATA4, Adult, Female, Humans, Pregnancy, GATA4 Transcription Factor, Heart Septal Defects, Hernias, Diaphragmatic, Congenital

SGUL Research Institute / Research Centre:

Academic Structure > Cardiovascular & Genomics Research Institute
Academic Structure > Cardiovascular & Genomics Research Institute > Genomics

Journal or Publication Title:

European Journal of Medical Genetics

ISSN:

1769-7212

Language: