国内外学者及申请人发现POPDC家族基因突变与法洛四联症的发生相关，但POPDC家族基因调控该疾病发生的机制未知。申请人利用斑马鱼模型证明POPDC家族基因与胚胎心脏发育有关，推测该家族基因突变导致的心脏结构异常与人类先心病的发生有关；通过模仿人类POPDC1基因点突变构建的心肌细胞模型证明，POPDC1结构域随机点突变均导致明显的心肌细胞形态畸形；通过建立的斑马鱼POPDC1点突变模型分析表明，其突变导致心脏结构与生理学表型；申请人拟利用模拟法洛四联症疾病突变的心肌细胞、斑马鱼与小鼠动物模型，以POPDC3基因为代表， 分析POPDC家族基因完全突变与点突变导致的心脏形态及生理功能突变表型，探讨基因与先心病发生的分子调控机制，为进一步阐明POPDC家族基因与法洛四联症发生的关系奠定基础。

POPDC family gene mutation were found to be related to tetralogy of Fallot, but the regulation mechanism is unknown. By zebrafish model, POPDC genes are shown to be involved in embryonic heart development, suggesting that the heart abnormalities and gene mutations are related; cardial cell model of POPDC1 point mutation showed cardial cell morphology abnormalities; and zebrafish POPDC1 point mutation model showed cardiac structure and physiology phenotype; molecular analysis showed that the GATA4 associated with tetralogy of Fallot is POPDC1 target gene. Cardial cell, zebrafish and mouse models with POPDC family gene mutation will be used to study the physiological function and mutant phenotype between the point mutation of POPDC1 gene and cardiac morphology, to explore the molecular mechanism of the gene point tutation with congenital heart disease, laying the foundation for further elucidating the relationship between POPDC genes and tetralogy of Fallot.