Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.

Abstract

KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. KID syndrome is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26). Cx26 is a component of gap junction channels in the epidermis and in the stria vascularis of the cochlea. These channels play a role in the coordinated exchange of molecules and ions occurring in a wide spectrum of cellular activities. In this paper we describe two patients with Cx26 mutations cause cell death by the alteration of protein trafficking, membrane localization and probably interfering with intracellular ion concentrations. We discuss the pathogenesis of both the hearing and skin phenotypes.

• Authors: Alessandro Terrinoni, Andrea Codispoti, Valeria Serra, Ernesto Bruno, Biagio Didona, Mauro Paradisi, Steven Nisticò, Elena Campione, Bianca Napolitano, Laura Diluvio, Gerry Melino
• Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 395 Issue 1 Pg. 25-30 (Apr 23 2010) ISSN: 1090-2104 [Electronic] United States
• PMID: 20307501 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Crown Copyright 2010. Published by Elsevier Inc. All rights reserved.

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

Topics

• Apoptosis (genetics)
• Child
• Connexin 26
• Connexins (genetics, metabolism)
• DNA Mutational Analysis
• Ectodermal Dysplasia (genetics, metabolism, pathology)
• Female
• Hearing Loss (genetics, metabolism)
• Humans
• Ichthyosis (genetics, metabolism, pathology)
• Male
• Protein Transport
• Syndrome
• Young Adult