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。 Less sweat-like ectodermal dysplasia (HED) is a rare inherited condition that originates from dysplasia of ectodermal tissues, such as teeth, sweat glands and hair. At present, the reports about HED both at home and abroad are mostly clinical case analysis, and there are few reviews about molecular level research. The following HED types, gene mapping, gene mutations, gene function and signal pathways summarize HED related genes and their protein function research progress.