全面性发育迟缓/智力障碍合并先天性颅面部畸形的信号通路研究进展  

Advances in the study of signaling pathways in Global developmental delay/Intellectual disability combined with congenital craniofacial malformation

作　　者：蒋云舒 李晓南[1] Jiang Yunshu;Li Xiaonan(Departmentof Children′s Health,Children′s Hospital of Nanjing Medical University,Nanjing,Jiangsu 210008,China)

机构地区：[1]南京医科大学附属儿童医院儿童保健科,南京210008

出　　处：《中华医学遗传学杂志》2025年第2期249-256,共8页Chinese Journal of Medical Genetics

摘　　要：全面性发育迟缓(GDD)和智力障碍(ID)是指发育过程中出现的认知和适应功能缺陷。GDD/ID通常伴有复杂的发育异常,其中先天性颅面部畸形最为常见,包括颅缝早闭、唇腭裂和先天性牙齿缺失等。GDD/ID合并先天性颅面部畸形的具体发病机制尚不明确,随着越来越多遗传综合征的报道,遗传因素逐渐被认为是导致大脑与颅面部发育异常并发的关键原因。已有研究表明,Wnt、SHH、FGF和BMP是颅面部发育的经典调控分子,同时也与大脑发育的多个阶段密切相关。笔者拟重点综述Wnt、SHH、FGF和BMP信号通路在大脑和颅面部发育中的调控作用,以及其与GDD/ID和颅面部畸形发病机制的关联,旨在为阐释GDD/ID合并先天性颅面部畸形的病因提供新的研究思路。Global developmental delay(GDD)and intellectual disability(ID)refer to deficits in cognitive and adaptive functioning that arise during the developmental period.GDD/ID is often accompanied by complex developmental abnormalities,with congenital craniofacial malformations being among the most common,such as craniosynostosis,cleft lip and palate,and congenital tooth agenesis.However,the underlying mechanisms of GDD/ID associated with congenital craniofacial malformations remain unclear.With the increasing number of reported genetic syndromes,genetic factors are emerging as key contributors to the concurrent abnormalities in brain and craniofacial development.Studies have identified Wnt,SHH,FGF,and BMP as classical regulatory molecules in craniofacial development,and their roles have also been closely linked to various stages of brain development.This review focuses on the regulatory roles of Wnt,SHH,FGF,and BMP signaling pathways in brain and craniofacial development,as well as the pathogenic mechanisms underlying their association with GDD/ID and craniofacial malformations.The aim is to provide new insights into the etiology of GDD/ID combined with congenital craniofacial malformations.

关 键 词：全面性发育迟缓 智力低下 颅面部畸形 信号通路 基因 

分 类 号：R726.2[医药卫生—儿科]