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Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss |
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| Authors: | Alessandro Terrinoni,Andrea Codispoti,Valeria Serra,Biagio Didona,Steven Nisticò ,Bianca Napolitano,Gerry Melino |
| Affiliation: | a Biochemistry Laboratory, IDI-IRCCS, C/O Department of Experimental Medicine and Biochemical Sciences, University of Rome “Tor Vergata”, 00133 Rome, Italy b ENT Department, University of Rome “Tor Vergata”, 00133 Rome, Italy c I Dermatological Division, IDI-IRCCS, Via dei Monti di Creta, 104, Rome 00167, Italy d VII Pediatric Division, IDI-IRCCS, Via dei Monti di Creta, 104, Rome 00167, Italy e Department of Diagnostic Imaging, University of Rome “Tor Vergata”, 00133 Rome, Italy f Medical Research Council, Toxicology Unit, Hodgkin Building, Leicester University, Lancaster Road, P.O. Box 138, Leicester LE1 9HN, UK |
| 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. |
| Keywords: | Cx, connexin EP, endocochlear potential ABR, auditory brainstem responses GFP, green fluorescent protein |
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