程建岗　刘建　李伟华

摘要： Congenital clubfoot (CCF) is a common deformity of foot. Previous studies have shown that CCF is related to skeletal dysplasia, neuromuscular disease, soft tissue contractures, vascular anomalies, genetic factors and intrauterine growth retardation. However, more scholars believe that this disease is the result of the interactions of multiple genetic and environmental factors. The current study has found that the incidence of CCF is closely related to changes of some related genes. Hox genes are major genes in control of vertebrate embryonic development and organogenesis. Hox A and Hox D play an important role in regulating limb development. Hox genes have 4 basic functions during limb genesis: regulating the starting time of chondrocyte proliferation and differentiation and their speed; regulating the proliferation of undifferentiated mesenchymal cells; participating in the process of mesenchymal cell condensation to form the primordia of protoplasm; participating in the formation of chondrocytes. CCF correlates with the developmental abnormalities of bones, muscles, soft tissues, nerves, blood vessels and so on, and Hox genes regulate the formation of nerves, muscles, bones and blood vessels. It can be speculated from above functions of CCF and Hox genes that the occurrence of CCF is caused by abnormal regulation of Hox genes during limb development. The emergence of mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene may cause damage to human growth and development, while DTDST gene mutations are not the only factors that cause CCF.  Pituitary homeobox 1 (PITX1) gene is the main regulating gene in the lower limb development. It is involved in cell apoptosis through abelson tyrosine kinase (c-Abl) (nonreceptor tyrosine kinase), and while cell apoptosis may be associated with the etiology of CCF. The research have showed that the alpha 1 chain of type IX collagen (COL9A1) gene may be the susceptibility gene for CCF. However, in which way COL9A1 gene participates in the process of CCF is still not clear. This article just reviewed the research progress of such pathogenic genes as Hox genes, DTDST gene, PITX1 gene, COL9A1 gene and so on.