Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

E. A. de Zwart-Storm, Rafael F.M. Rosa, Patricia E.M. Martin, Regina Foelster-Holst, Ana E.K. Bau, Paulo R.G. Zen, Carla Graziadio, Giorgio A. Paskulin

Research output: Contribution to journalArticle

Abstract

Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused by the mutation p.Asn14Lys in connexin26. However, a different mutation at the same location, p.Asn14Tyr, was reported to cause a disorder similar to KID. Distinct substitutions cause different conformational changes to the protein, each with unique consequences for its behaviour. This may explain the phenotypic differences.

Original languageEnglish
Pages (from-to)408-412
Number of pages5
JournalExperimental Dermatology
Volume20
Issue number5
DOIs
Publication statusPublished - 1 May 2011

Keywords

  • connexin26
  • gap junction
  • skin phenotypes
  • keratitis-ichthyosis-deafness syndrome

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    de Zwart-Storm, E. A., Rosa, R. F. M., Martin, P. E. M., Foelster-Holst, R., Bau, A. E. K., Zen, P. R. G., Graziadio, C., & Paskulin, G. A. (2011). Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Experimental Dermatology, 20(5), 408-412. https://doi.org/10.1111/j.1600-0625.2010.01222.x