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J Dtsch Dermatol Ges. 2005 Feb;3(2):105-8.

[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].

[Article in German]

Author information

  • 1Univ.-Klinik für Dermatologie und Venerologie, Graz, Osterreich. barbara.binder@klinikum-graz.at

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.

PMID:
16351012
[PubMed - indexed for MEDLINE]
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