CHD7 gene mutation in congenital heart disease with brain dysplasia / 国际儿科学杂志

ABSTRACT

A variety of enzymes are involved in human development, such as chromatin domain helicase DNA-binding protein 7(CHD7), which is an ATP-dependent chromatin remodeling enzyme.The CHD7 could regulate many important transcription factors and may be involved in the process of growth development.Mutations in CHD7 can cause many developmental disorders, such as abnormal heart defects and delayed growth/development.At the same time, CHD7 affects neuronal differentiation and forebrain development, and has multiple target genes during brain development.Children with congenital heart disease are more likely to have the abnormal brain function and exocardiac malformations.Therefore, more attention has been paid to the children with congenital heart disease and brain dysplasia in clinical practice.This paper summarizes the biological function and mechanism of CHD7, as well as the effects of CHD7 on congenital heart disease with brain dysplasia inchildren, which could provide implications for the future study in this area.