Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis

Clin Exp Dermatol. 2011 Jan;36(1):88-90. doi: 10.1111/j.1365-2230.2010.03945.x.


Erythrokeratoderma variabilis (EKV) is characterized by fixed hyperkeratotic plaques and transient erythema. Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. We report one novel mutation in Cx31 and one recurrent mutation in Cx30.3 in two different families. One novel rare sequence variant of unknown clinical significance was also identified. This finding extends the spectrum of known EKV-associated mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Erythrokeratodermia Variabilis / genetics*
  • Erythrokeratodermia Variabilis / pathology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Mutation / genetics*
  • Pedigree
  • Young Adult


  • Connexins
  • GJB3 protein, human
  • connexin 30.3