To detect and explore mechanism of CITED2 mutation and methylation in children with congenital heart disease

Abstract

In this study we found four CITED2 coding region mutations (c.550G>A, c.574A>G, c.573-578del6) which led to alterations of amino acid sequence (p.Gly184Ser, p.Ser192Gly, p.Ser192fs) in 120 children with congenital heart disease. The CITED2 mutation associated with the dysregulation of HIF-1a, TFAP2c, and CITED2 methylation accompanied with its decrease in mRNA expression might be involved in the pathological process of congenital heart disease.