Clouston syndrome: gene diagnosis and pathogenic mechanism

Abstract

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:G1 1R,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. Key words: Clouston syndrome; Gene GJB6; Connexin 30; Gene diagnosis; Pathogenic mechanism