GATA4 and diaphragmatic hernia: Diaphragmatic hernia has been associated with reduced expression of GATA4,7 and CDH related to pathogenic GATA4 variants is predicted to result from haploinsufficiency through a loss-of-function mechanism.21 Functional studies in mice have demonstrated that GATA4 deficiency, especially in mesenchymal-derived muscle connective tissue fibroblasts, causes CDH.