少汗型外胚层发育不良症相关基因及其蛋白

Research progress in the genes and proteins of hypohidrosis ectodermal dysplasia

少汗型外胚层发育不良症(HED)是一种罕见的起源于外胚层组织,如牙、汗腺、毛发等发育异常的遗传性疾病。目前,国内外有关HED的报道多为临床病例分析,而有关分子水平研究的综述较少。下面就HED的类型、基因定位、基因突变、基因功能和信号途径几个方面概述HED相关基因及其蛋白功能的研究进展。

Hypohidrosis ectodermal dysplasia（HED） is a rare congenital disorder that results in abnormalities in the structures of ectodermal origin tissues, such as teeth, eccrine sweat glands, hair and nails. However, most of studys in HED is presented in the form of clinic case reports. This article reviews the research progress of HED in types, genetic locations, proteins, and signaling pathways in odontogenesis.