ZC4H2基因突变导致神经系统异常的分子机制  

The molecular mechanism of neurological abnormalities caused by ZC4H2 gene mutation

作　　者：朱德好 颜景斌 ZHU Dehao;YAN Jingbin(Shanghai Institute of Medical Genetics,Shanghai Children’s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200040,China;NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology&Shanghai Key Laboratory of Embryo and Reproduction Engineering,Shanghai 200040,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院,上海医学遗传研究所,上海200040 [2]国家卫健委医学胚胎分子生物学重点实验室,上海市胚胎与生殖工程重点实验室,上海200040

出　　处：《生命的化学》2024年第11期2073-2079,共7页Chemistry of Life

基　　金：上海市临床重点专科项目。

摘　　要：锌指C4H2(zinc finger C4H2-type containing,ZC4H2)基因位于Xq11.2,其突变会导致一组以神经系统发育迟缓、多发性关节挛缩、进行性肌肉萎缩及多种先天畸形为临床特征的多系统受累的罕见遗传病,对于神经系统的影响较为深远且危害较大,但ZC4H2基因突变导致神经系统异常的分子机制尚未完全阐明。本综述介绍了ZC4H2基因在神经系统发育中的作用,并重点讨论该基因突变导致神经系统异常的最新进展,为后续研究提供参考。Zinc finger C4H2-type containing(ZC4H2)gene locates at Xq11.2,and its mutations can lead to a group of rare genetic diseases with multi-system involvement characterized by nervous system development delay,multiple joint contractures,progressive muscle atrophy,and a variety of congenital malformations.The disease has a profound and harmful effect on the nervous system,but the molecular mechanism of ZC4H2 gene mutation caused neurological abnormalities has not been fully elucidated.This review introduced the role of ZC4H2 gene in the nervous system development,and focused on the latest progress in neurological abnormalities caused by mutations of this gene,which will be helpful for future research.

关 键 词：ZC4H2 ZARD 神经系统异常 神经发育障碍 

分 类 号：R741[医药卫生—神经病学与精神病学]