A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

E. A. de Zwart-Storm, H. Hamm, J. Stoevesandt, P. M. Steijlen, Patricia E.M. Martin, M. van Geel, M. A.M. van Steensel

Research output: Contribution to journalArticle

Abstract

Gap junctions are intercellular channels that mediate rapid intercellular communication. They consist of connexins, small transmembrane proteins that belong to a large family found throughout the animal kingdom. In the skin, several connexins are expressed and are involved in the regulation of epidermal growth and differentiation. One of the skin expressed gap junction genes is GJB2, which codes for connexin 26 and is associated with a wide variety of keratinisation disorders. Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome.

Original languageEnglish
Pages (from-to)161-166
Number of pages6
JournalJournal of Medical Genetics
Volume45
DOIs
Publication statusPublished - 1 Jan 2008

Keywords

  • connexins
  • gap junctions
  • intercellular communication

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