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

Alessandro Terrinoni, Andrea Codispoti, Valeria Serra, Ernesto Bruno, Biagio Didona, Mauro Paradisi, Steven Nisticò, Elena Campione, Bianca Napolitano, Laura Diluvio, Gerry Melino

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)25-30
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume395
Issue number1
DOIs
Publication statusPublished - Apr 2010

Keywords

  • Cell death
  • Connexin
  • Deafness
  • Gap junctions
  • KID syndrome
  • Mutations

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

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  • Cite this

    Terrinoni, A., Codispoti, A., Serra, V., Bruno, E., Didona, B., Paradisi, M., Nisticò, S., Campione, E., Napolitano, B., Diluvio, L., & Melino, G. (2010). Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochemical and Biophysical Research Communications, 395(1), 25-30. https://doi.org/10.1016/j.bbrc.2010.03.098