Connexin-26 mutations in deafness and skin disease.

Expert Reviews in Molecular Medicine
Jack R Lee, T W White

Abstract

Gap junctions allow the exchange of ions and small molecules between adjacent cells through intercellular channels formed by connexin proteins, which can also form functional hemichannels in nonjunctional membranes. Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome. The most common mutation in the Cx26 gene linked to nonsyndromic deafness is 35DeltaG, a frameshift mutation leading to an early stop codon. The large number of deaf individuals homozygous for 35DeltaG do not develop skin disease. Similarly, there is abundant experimental evidence to suggest that other Cx26 loss-of-function mutations cause deafness, but not skin disease. By contrast, Cx26 mutations that cause both skin diseases and deafness are all single amino acid changes. Since nonsyndromic deafness is predominantly a loss-of-function disorder, it follows that the syndromic mutants must show an alteration, or g...Continue Reading

References

Oct 1, 1977·Journal of Ultrastructure Research·R Caputo, D Peluchetti
Aug 1, 1990·Journal of Neurophysiology·E C Oesterle, P Dallos
Aug 1, 1990·Journal of the American Academy of Dermatology·V NazzaroJ Civatte
Jul 1, 1988·The Journal of Clinical Investigation·D SalomonP Meda
Feb 1, 1989·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·B A Schulte, J C Adams
Jan 1, 1989·The Journal of Physiology·B M JohnstoneE Syková
Jun 1, 1987·The British Journal of Dermatology·J Verbov
Dec 1, 1986·The Journal of Investigative Dermatology·E KamJ D Pitts
Jan 26, 1967·The New England Journal of Medicine·R S Bart, R E Pumphrey
Jan 1, 1981·International Review of Cytology·C S Potten
Mar 1, 1983·Hearing Research·J Santos-Sacchi, P Dallos
Feb 1, 1995·Anatomy and Embryology·T KikuchiJ C Adams
Apr 1, 1995·The British Journal of Dermatology·K PerisS Chimenti
Feb 1, 1997·The Journal of Investigative Dermatology·M V RivasJ G Krueger
Jun 1, 1997·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·J J CrouchB A Schulte
May 1, 1997·The Journal of Laryngology and Otology·S M HamptonJ Small
Sep 1, 1997·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·E Masgrau-PeyaP Meda
Oct 27, 1997·The Journal of Investigative Dermatology·B P KorgeC S Munro
Feb 24, 1998·The Journal of Laryngology and Otology·S M Hampton, M J Cinnamond
Jun 10, 1998·Nature·F DenoyelleC Petit
Jul 17, 1998·The Journal of Investigative Dermatology·M P LabartheD Salomon
Nov 3, 1998·Cell and Tissue Research·J LautermannE Winterhager
Jan 14, 2000·Journal of Medical Genetics·S AbeW J Kimberling
Apr 7, 2000·Brain Research. Brain Research Reviews·T KikuchiJ C Adams
Apr 7, 2000·Brain Research. Brain Research Reviews·T W White
Apr 11, 2000·European Journal of Human Genetics : EJHG·D P KelsellI M Leigh
Aug 16, 2000·Neuroreport·A P XiaT Takasaka
Nov 9, 2001·Annual Review of Genetics·C PetitJ P Hardelin
Jan 5, 2002·Quarterly Reviews of Biophysics·D Leckband, J Israelachvili
Jan 25, 2002·The New England Journal of Medicine·Ignacio del CastilloFelipe Moreno
Feb 13, 2002·Quarterly Reviews of Biophysics·A L Harris

❮ Previous
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Citations

Mar 15, 2011·The Journal of Membrane Biology·Ioana AlesutanFlorian Lang
Apr 20, 2013·Neuropharmacology·Vytas K Verselis, Miduturu Srinivas
May 23, 2013·European Journal of Human Genetics : EJHG·Lies H HoefslootUNKNOWN contributors to EMQN DFNB1 best practice meeting
Aug 17, 2011·The Journal of General Physiology·Darren LockeAndrew L Harris
Mar 17, 2012·Indian Journal of Dermatology, Venereology and Leprology·Müzeyyen GönülÖmer Hizli
Mar 1, 2013·American Journal of Physiology. Cell Physiology·Pallavi V MhaskeThomas W White
Nov 10, 2012·Cell and Tissue Research·Charlotte SimpsonOlivier Marchès
Jan 18, 2014·FEBS Letters·Dale W Laird
Jan 18, 2016·Seminars in Cell & Developmental Biology·Evelyn LillyThomas W White
Dec 15, 2015·Seminars in Cell & Developmental Biology·Donglin Bai
Jun 19, 2016·Current Research in Translational Medicine·A BousfihaA Barakat
Aug 29, 2012·Clinical and Experimental Dermatology·A OgawaS Usami
Feb 28, 2013·Pediatric Dermatology·María M IbáñezFrancisco J Díez-Delgado
Jun 27, 2014·Biology of the Cell·Filippo MolicaBrenda R Kwak
May 17, 2013·International Journal of Dermatology·Lyubov AvshalumovaAngie Koriakos
Jan 15, 2015·Bioscience Reports·Mariana C FioriLuis G Cuello
Nov 12, 2014·Frontiers in Cellular Neuroscience·Helmuth A Sanchez, Vytas K Verselis
Apr 20, 2014·Frontiers in Physiology·Andrew L Harris, Jorge E Contreras
Jun 30, 2016·The Journal of General Physiology·Helmuth A SanchezVytas K Verselis
Jun 1, 2017·Biochimica Et Biophysica Acta. Biomembranes·Eric C Beyer, Viviana M Berthoud
Dec 1, 2017·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Mariana C FioriGuillermo A Altenberg
Oct 7, 2017·The Journal of Biological Chemistry·Brian Skriver NielsenNanna MacAulay
Nov 10, 2014·Cell and Tissue Research·Daniel J Jagger, Andrew Forge
Aug 6, 2017·Cold Spring Harbor Perspectives in Biology·Mario DelmarThomas W White
Oct 13, 2018·Nature Reviews. Drug Discovery·Dale W Laird, Paul D Lampe
Aug 19, 2020·International Journal of Dermatology·Mun W LamPick N Woo
Jul 28, 2019·Molecular Genetics & Genomic Medicine·Nikolai P PaceIsabella Borg

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