The Impact of GATA2 Expression and Methylation on Patients withHirschsprung’s Disease

We demonstrated aberrant expression and methylation of GATA2 in the HIRSH patients. The findings of this study also indicate that GATA2 hypermethylation is associated with increased GATA2 expression, contradicting the established inverse association between DNA methylation and transcriptional activity. This may indicate a distinctive interplay between the epigenetics of GATA2 and RET GRN in the context of HIRSH.