先天性马蹄内翻足基因学研究进展

Research advances in genetics of congenital talipes equinovarus

先天性马蹄内翻足(congenital talipes equinovarus,CTEV)是儿童最常见的骨骼肌肉出生缺陷畸形之一,临床特征包括跟骨内翻、前足内收、高弓足和后足跖屈畸形。目前CTEV的发病机制仍不清楚,不同的学说包括:神经细胞损伤、肌肉异常、血管缺陷、子宫内限制、遗传因素、特发性先天性畸形、基因-环境的相互作用、骨骼发育不良、细胞外基质异常、分子转运和代谢异常等。遗传因素对于CTEV的致病起着重要作用,但尚未发现主要的致病基因。普遍认为CTEV是环境因素和遗传因素共同作用的结果。现对CTEV致病基因的研究进展做一综述。

Congenital talipes equinovarus(CTEV)has been one of the most common birth defects of skeletal muscle in children.Its pathogenesis is still elusive.Different theories cover nerve cell injury,muscle abnormality,vascular defect,intrauterine restriction,genetic factors,idiopathic congenital malformation,gene environment interaction,bone dysplasia,extracellular matrix abnormality,molecular transport and metabolic abnormality.Genetic factors play an important role in the etiology of CTEV.However,no major pathogenic gene has been identified.It is generally believed that environmental and genetic factors may interact.This review summarized the latest researches of CTEV pathogenic genes.