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 journalArticlepeer-review

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

Fingerprint

Dive into the research topics of 'Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes'. Together they form a unique fingerprint.

Cite this