表皮松解性掌跖角化症KRT9基因突变致病机制的研究进展

The research status of KRT9 gene mutations in epidermolytic palmoplantar keratoderma

表皮松解性掌跖角化症(EPPK)是一种较为常见的常染色体显性皮肤遗传病,目前尚无有效的治疗方法。本文总结了引起EPPK角蛋白异常的热点突变基因KRT9及其突变位点,KRT9作为可靠生物学标记已经成功应用于临床产前诊断,阐述角蛋白表达及其调控发病机制的突变Krt9基因敲入小鼠模型,以及靶向特异性sh RNA介导治疗EPPK等研究进展。

Epidermolytic palmoplantar keratoderma（EPPK） is a relatively common autosomal dominant skin genetic disorder caused by mutations in the keratin 9 gene（KRT9）,with few therapeutic options for the affected so far. Here,the hot mutation sites of KRT9,KRT9 gene mutation as a reliable indicator applied in clinical prenatal molecular diagnosis of EPPK,the construction of Krt9 gene mutation knock-in mouse model,and the mutant-specific sh RNA-mediated treatment of EPPK were summarized.