CHD7基因突变与先天性心脏病合并脑发育不良  

CHD7 gene mutation in congenital heart disease with brain dysplasia

作　　者：黄湘晖(综述) 庄德义(审校) Huang Xianghui;Zhuang Deyi(Xiamen Children′s Hospital Fujian Provincial Key Laboratory of Neonatal Diseases,Xiamen 361006,China)

机构地区：[1]厦门市儿童医院福建省新生儿疾病重点实验室,361006

出　　处：《国际儿科学杂志》2023年第11期737-740,共4页International Journal of Pediatrics

基　　金：厦门市儿童医院骨干人才项目(CHP-2019-BT-A007);厦门市医疗卫生指导性项目(3502Z 20209222)。

摘　　要：人类发育需要多种酶的参与, 其中包括染色质域解旋酶DNA结合蛋白7(chromatin domain helicase DNA-binding protein 7, CHD7), 而CHD7是一种ATP依赖的染色质重塑酶, 能够调控多种重要转录因子, 参与生长发育的全过程。CHD7的突变会导致多种发育障碍, 如心脏发育异常、生长发育迟缓等。同时, CHD7影响神经元分化及前脑发育, 在大脑发育过程中具有多个靶基因。先天性心脏病患儿容易合并脑功能异常等心外畸形。因此, 先天性心脏病合并脑发育不良越来越受到临床关注。该文概括了CHD7的生物学功能和调控机制, 总结CHD7在先天性心脏病合并脑发育不良中的作用, 为研究先天性心脏病合并脑发育不良相关研究提供可借鉴的方法。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.

关 键 词：CHD7 先天性心脏病合并脑发育不良 心脏发育 脑发育 

分 类 号：R725[医药卫生—儿科]