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

Eugene A. de Zwart-Storm*, M. van Geel, E. Veysey, P.S. Burge, Richard S. Cooper, P. M. Steijlen, P. E. Martin, M. A. M. van Steensel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Web of Science)

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 integrity.
Original languageEnglish
Pages (from-to)197-199
JournalBritish Journal of Dermatology
Volume164
Issue number1
DOIs
Publication statusPublished - Jan 2011

Cite this