| Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. | |
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MedLine Citation:
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PMID: 20307501 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Alessandro Terrinoni; Andrea Codispoti; Valeria Serra; Ernesto Bruno; Biagio Didona; Mauro Paradisi; Steven Nisticò; Elena Campione; Bianca Napolitano; Laura Diluvio; Gerry Melino |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-20 |
Journal Detail:
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Title: Biochemical and biophysical research communications Volume: 395 ISSN: 1090-2104 ISO Abbreviation: Biochem. Biophys. Res. Commun. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-26 Completed Date: 2010-05-07 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 0372516 Medline TA: Biochem Biophys Res Commun Country: United States |
Other Details:
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Languages: eng Pagination: 25-30 Citation Subset: IM |
Copyright Information:
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Crown Copyright 2010. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Biochemistry Laboratory, IDI-IRCCS, C/O Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy. alessandro.terrinoni@uniroma2.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Apoptosis
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genetics Child 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 |
| Grant Support | |
ID/Acronym/Agency:
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GGP09133//Telethon; //Medical Research Council |
| Chemical | |
Reg. No./Substance:
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0/Connexins; 127120-53-0/connexin 26 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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