Cai Chunquan, Shi Ouyan
Department of Surgery, Tianjin Children's Hospital, Tianjin, 300074, China.
Front Med. 2014 Mar;8(1):68-78. doi: 10.1007/s11684-014-0308-4. Epub 2013 Dec 4.
Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.
神经管缺陷（NTDs）是一组出生异常，会对家庭和社区造成深远的身体、情感和经济影响。其病因复杂，涉及环境和遗传因素的相互作用，这些因素共同调节发育表型的发生率和严重程度。平面细胞极性（PCP）通路在原肠胚形成和神经管闭合过程中控制汇聚延伸（CE）过程，并且在动物模型和人类队列的神经管缺陷发病机制中发挥作用。本综述总结了近期关于PCP信号通路与人类神经管缺陷研究的累积结果。这些结果表明，PCP基因改变在人类神经管缺陷的病因中起作用。
