RGD Reference Report - Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. - Rat Genome Database

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

Authors: Terrinoni, A  Codispoti, A  Serra, V  Bruno, E  Didona, B  Paradisi, M  Nistico, S  Campione, E  Napolitano, B  Diluvio, L  Melino, G 
Citation: Terrinoni A, etal., Biochem Biophys Res Commun. 2010 Apr 23;395(1):25-30. doi: 10.1016/j.bbrc.2010.03.098. Epub 2010 Mar 20.
RGD ID: 7364811
Pubmed: PMID:20307501   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bbrc.2010.03.098   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal dominant keratitis-ichthyosis-deafness syndrome  IAGP 7364811DNA:mutations:cds:p.G11E and p.D50N(human)RGD 
autosomal dominant keratitis-ichthyosis-deafness syndrome  ISOGJB2 (Homo sapiens)7364811; 7364811DNA:mutations:cds:p.G11E and p.D50N(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gjb2  (gap junction protein, beta 2)

Genes (Mus musculus)
Gjb2  (gap junction protein, beta 2)

Genes (Homo sapiens)
GJB2  (gap junction protein beta 2)


Additional Information