Clouston综合征的基因诊断及致病机制

Clouston syndrome： gene diagnosis and pathogenic mechanism

Clouston综合征又称有汗性外胚层发育不良,是一种以毛发稀少、甲发育不良及掌跖角化过度为主要症状的常染色体显性遗传病.Clouston综合征由GJB6基因突变引起,目前已发现的致病突变类型有G11R、A88V、V37E、D50N.该文旨在综述Clouston综合征基因诊断及致病机制的研究进展,这对获得明确的病因诊断、遗传咨询及干预治疗至关重要.

Clouston syndrome , also named hidrotic ectodermal dysplasia, is an autosomal dominant genetic disease. It is characterized by hypotrichosis, nail dystrophy and palmoplantar hyperkeratosis. It is caused by mutations in the GJB6 gene. Up to date, there are four GJB6 missense mutations that can cause Clouston syndrome.GllR,A88V, V37E and D50N. This article reviews the progress of gene diagnosis and pathogenic mechanism of Clouston syndrome, which can contribute to etiological diagnosis, genetic counseling, intervention as well as treatment.