先天性巨结肠（HSCR）发生的主要原因是胚胎期肠神经嵴细胞（ENCCs）迁移增殖障碍。我们采用lncRNA芯片分析，整合人群样本及细胞检测发现：HSCR病变肠管中lncRNA-RMST及miR-1251及转录因子SOX2均为低表达状态，体外实验低表达lncRNA-RMST及miR-1251均抑制神经细胞迁移及增殖，结合生物信息学预测SOX2可以与lncRNA-RMST相结合，同时与miR-1251启动子区域结合，共同参与ENCCs迁移增殖障碍，由此假设：lncRNA-RMST作为SOX2转录共调控因子通过miR-1251调控靶基因AHNAK表达，影响ENCCs的迁移和增殖，参与先天性巨结肠发生。.本研究将阐述LncRNA-RMST/SOX2/miR-1251通路影响ENCCs迁移和增殖，探讨该通路在HSCR发生中的作用，本研究可为HSCR发生机制提供新视点和胚胎期防治提供潜在靶标。

Hirschsprung’s disease (HSCR)is highly associated with the failure of migration of enteric neural crest-derived cells (ENCCs). Using lncRNA microarray analysis of the established HSCR samples, together with cell experiment results, we found the expressions of lncRNA-RMST, miR-1251 and SOX2 decreased significantly. In vitro, results showed that downregulations of lncRNA-RMST and miR-1251 inhibited migration and proliferation of neuron. Besides, bioinformatics prediction showed that lncRNA-RMST interacting with SOX2 which combined with the promoter region of miR-1251, participated in influence of the ENCCs migration. We hypothesized that lncRNA-RMST is required for the binding of SOX2 to promoter regions of miR-1251 and coregulates the target gene AHNAK, causing the failure of ENCCs’ migration to intestine and finally leading to HSCR..Our research aims to investigate the role of LncRNA-RMST/SOX2/miR-1251 in the failure of ENCCs migration and proliferation. We will identify its role in the occurrence of HSCR in vitro experiments. This research will bring new viewpoints to the HSCR pathogenesis, providing potential targets in the prevention and treatment of HSCR during the embryonic period.