颅缝早闭症与FGF信号通路  

Craniosynostosis and FGF Signaling Pathway

作　　者：李国清[1] 寇瑶[1] 程铭津 徐胜[1] 田静[1] 

机构地区：[1]西北大学西部资源生物与现代生物技术教育部重点实验室,陕西省西安市710069

出　　处：《组织工程与重建外科杂志》2017年第4期215-219,共5页Journal of Tissue Engineering and Reconstructive Surgery

基　　金：西部资源生物与现代生物技术教育部重点实验室开放基金项目(360011326)

摘　　要：颅缝早闭系由于1条或多条颅缝早期融合而引发的各种头颅畸形,导致患儿容貌畸变,阻碍正常发育。其确切的病理机制仍然未知,但成纤维表皮生长因子(FGF)似乎在颅缝正常发育过程中起着非常重要的作用。本文总结了目前已报道的与遗传相关的颅缝早闭症及其致病基因,着重介绍与FGF因子相关的颅缝早闭症,以期为颅缝缺陷的遗传诊断和研究提供帮助。Craniosynostosis represents a kind of skull deformity caused by the premature fusion of one or more cranial sutures, which often changes the patient＇s appearance, sometimes obstructs the normal development. Although the exact pathogenesis of early cranial suture closure is still largely unknown, the fibroblast epidermal growth factor （FGF） seems to have affected the normal development of the cranial sutures. In this paper, the recent genetic researches related craniosynos- tosis and those identified pathogenic genes were summarized, mainly focuses on the FGF factors, to help the genetic diagnosis and the study of cranial sutures defects.

关 键 词：颅缝早闭症 致病基因 遗传模式 成纤维表皮生长因子 

分 类 号：R726.2[医药卫生—儿科]