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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
蒋云舒
李晓南
作者及单位信息
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DOI： 10.3760/cma.j.cn511374-20240924-00505
Advances in the study of signaling pathways in Global developmental delay / Intellectual disability combined with congenital craniofacial malformation
Jiang Yunshu
Li Xiaonan
Authors Info & Affiliations
Jiang Yunshu
Departmentof Children′s Health, Children′s Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China
Li Xiaonan
Departmentof Children′s Health, Children′s Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China
·
DOI： 10.3760/cma.j.cn511374-20240924-00505
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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。

全面性发育迟缓;智力低下;颅面部畸形;信号通路;基因
ABSTRACT

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.

Global Developmental Delay;Intellectual Disability;Craniofacial malformation;Signaling pathway;Gene
Li Xiaonan, Email: mocdef.3ab619816nanoaix
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引用本文

蒋云舒,李晓南. 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[J]. 中华医学遗传学杂志,2025,42(02)：249-256.

DOI:10.3760/cma.j.cn511374-20240924-00505

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全面性发育迟缓(global development delay，GDD)指5岁以下儿童在两个或多个领域未能达到年龄范围内预期的发育里程碑，包括粗大运动或精细运动、语言、认知、社交和社会适应能力。智力障碍(intellectual disability，ID)指5岁以上儿童存在智力功能缺陷与适应性功能缺陷 [ 1 ]。GDD与ID均为具有高度异质性的神经发育障碍性疾病，影响着全球约1%～3%的儿童 [ 2 ]。GDD/ID患儿常伴随复杂的发育异常，由头部及面部骨骼或软组织的异常生长发育所引起的先天性颅面部畸形是最常见的临床特征，总体发生率高于34% [ 3 , 4 ]。
截至目前，GDD/ID合并先天性颅面部畸形的具体发病机制尚不明确，既往通常从发育时间和解剖结构两个方面进行解释，在胚胎发育时间轴上，大脑和颅面部共享同一个时间窗，都起自胚胎期(孕5周左右) [ 5 ]；在解剖结构上，颅底既是大脑发生发展的平台，又为颅面部组织形态的变化提供模板 [ 6 ]。随着分子诊断技术的发展与普及，越来越多GDD/ID合并颅面部畸形的患儿被发现存在明确的遗传学病因，提示遗传因素可能是大脑与颅面部发育异常并发的关键原因。已有研究表明翼整合蛋白(wingless，Wnt)、音猬蛋白(sonic hedgehog，SHH)、成纤维细胞生长因子(fibroblast growth factor，FGF)、骨形成蛋白(bone morphogenetic protein，BMP)相关信号通路是颅面部发育的经典调控分子，其功能异常主要与颅缝早闭、唇腭裂、小下颌、牙齿缺如相关。此外，上述信号通路在大脑结构与功能的发生发展中同样扮演重要角色。本文围绕大脑发育与颅面部发育过程中Wnt、SHH、FGF、BMP相关信号通路展开综述，旨在从遗传学角度为阐明GDD/ID合并颅面部畸形的发生机制提供新的线索。
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