The relationship between gene GATA6 defect and congenital heart disease / 国际儿科学杂志

ABSTRACT

Recent studies have showed GATA6 may be a candidate gene of congenital heart disease (CHD).GATA6 is a member of the GATA transcription factors,and GATA6 is expressed within the precardiac mesoderm from early stages in its specification.Some studies about outflow tract (OFT) development show that GATA6 can directly regulate the migration of cardiac neural crest cells.Researchers find some missense mutation on GATA6 (p.A178V,p.L198V,p.D404Y,p.E460X) by directly sequencing.These mutations may influence transcriptional activity of GATA6 and are closely associated with CHD.Appropriate level of GATA6 in embryos is critical to cardiogenesis,and over-expression GATA6 can disrupt this process.Cardiogenesis needs a cascade of transcription factors includes GATA6 and other factors under fight temporal and spatial control.This paper reviews the latest studies about the relationship between gene GATA6 defect and CHD.