遗传性多发性骨软骨瘤致病基因研究进展

遗传性多发性骨软骨瘤(hereditary multiple exotosis,HME)是一种常染色体显性遗传病,与EXT1和EXT2基因突变导致软骨生长异常有关.目前新突变位点的发现和相关研究进一步揭示了其遗传规律和特点.同时,分子学研究初步解释了其致病机制,提出了EXT基因突变导致硫酸肝素合成减少,最终影响软骨细胞信号转导过程而致病的假说.此外,多项临床研究初步分析了表型-基因型的联系,为更完整的了解HME及指导临床实践提供了新的观点和思路.

Research Progress of the Virulent Genes in Hereditary Multiple Exotosis

Hereditary Multiple Exotosis(HME)is an Autosomal Dominant disease.HME is caused by the abnormalities in the growth plate cartilage development resuhed from EXT1 and EXT2 mutations.So far,plenty of researches have unveiled the discipline and characteristics of related gene mutations.The genotypephenotype relation and the molecular basis of pathogenesis of HME have also been initially explained.The research results and conclusions have provided many new ideas and opinions for further understanding HME and guiding clinical activities in the future.