Connexin-26-mutation bei "keratitis-ichthyosis-deafness"-syndrom (KID-syndrom)

Translated title of the contribution: Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome

Barbara Binder, Hans Christian Hennies, Raimund Kraschl, Josef Smolle

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Background: Keratitis-ichthyosis-deafness syndrome (KID syndrome) is an extremely rare disorder. Inheritance is autosomal dominant but many cases occur sporadically following a spontaneous mutation. The cause of KID syndrome are missense mutations of the gene GJB2, encoding connexin 26. Patients and Methods: We clinically studied two cases of KID syndrome and extracted genomic DNA from peripheral blood. Results: The patients showed different heterozygous mutations of the connexin 26 gene and had quite different clinical courses. Conclusions: Both patients showed heterozygous mutations of the connexin 26 gene; a different Cx26 dominant mutation can cause a very different clinical course.

Translated title of the contributionConnexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome
Original languageGerman
Pages (from-to)105-108
Number of pages4
JournalJDDG - Journal of the German Society of Dermatology
Volume3
Issue number2
DOIs
Publication statusPublished - 1 Feb 2005
Externally publishedYes

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