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 contribution | Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome |
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Original language | German |
Pages (from-to) | 105-108 |
Number of pages | 4 |
Journal | JDDG - Journal of the German Society of Dermatology |
Volume | 3 |
Issue number | 2 |
DOIs | |
Publication status | Published - 1 Feb 2005 |
Externally published | Yes |