Identification of a mutation in GJB6 gene, encoding a gap junction protein Cx30, in a family with Clouston syndrome

Abstract

Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare autosomal dominant skin disorder characterized by hypotrichosis, nail dystorophy, and palmoplanter keratoderma in some cases. It has previously been shown that heterozygous missense mutations in GJB6 gene underlie the disease. The GJB6 gene encodes connexin 30 (Cx30), which belongs to a family of beta-class connexins and constitutes a gap junction channel through which direct intercellular communication is allowed between two contacting cells.