Journal article

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

EA de Zwart-Storm, M van Geel, E Veysey, S Burge, S Cooper, PM Steijlen, PE Martin, MAM van Steensel

BRITISH JOURNAL OF DERMATOLOGY | WILEY-BLACKWELL PUBLISHING, INC | Published : 2011

Abstract

Gap junctions are intercellular channels which are permeable to ions and small molecules up to about 1 kDa in size. They are prominent in the skin, but their precise function there is largely unknown. Mutations in skin-expressed gap junction genes disrupt epidermal growth and differentiation. A relatively minor epidermal connexin, connexin 26 (Cx26), is associated with a wide variety of phenotypes, each specifically associated with a particular amino acid residue. How the different mutations in GJB2 lead to such distinctive phenotypes is poorly understood. Analysis of new GJB2 mutations can shed new light on pathogenesis and the apparently vital role of Cx26 in maintaining epidermal integrit..

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Grants

Awarded by GROW School for Oncology and Developmental Biology, the University Hospital Maastricht and Dutch Cancer Society (KWF)


Funding Acknowledgements

E.A.d.Z.-S. is supported by an ESRF Young Investigator grant. M. A. M. v. S. is supported by grants from the GROW School for Oncology and Developmental Biology, the University Hospital Maastricht and Dutch Cancer Society (KWF) grant UM2009-4352. P. E. M. is supported by grants from the British Skin Foundation and Medical Research Scotland. This work is further supported by the Foundation for Ichthyosis and Related Skin Types.