Congenital Heart Disease and Extracardiac Phenotypes Associated With Novel Pathogenic Variant in GATA6
Congenital Heart Disease and Extracardiac Phenotypes Associated With Novel Pathogenic Variant in GATA6 https://pediatricsnationwide.org/wp-content/uploads/2022/07/AdobeStock_134232290-DNA-header-1024x575-1.gif 1024 575 Jessica Nye, PhD https://pediatricsnationwide.org/wp-content/uploads/2021/09/JNye_glasses.pngA study published in Pediatric Research describes a novel pathogenic variant in the gene GATA binding protein 6 (GATA6) associated with congenital heart disease (CHD), diabetes mellitus and necrotizing enterocolitis. GATA is a family of transcription factors that encode zinc finger DNA binding proteins which are critical regulators during organogenesis. Pathogenic variants in three…