Connexin-26-Mutation bei "Keratitis-Ichthyosis-Deafness"-Syndrom (KID-Syndrom) [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]

Tools

Item Type:	Article
Title:	Connexin-26-Mutation bei "Keratitis-Ichthyosis-Deafness"-Syndrom (KID-Syndrom) [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]
Creators Name:	Binder, B., Hennies, H.C., Kraschl, R. and Smolle, J.
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.
Keywords:	Connexin 26 Mutation, Gap Junctions, KID Syndrome
Source:	Journal der Deutschen Dermatologischen Gesellschaft : JDDG
ISSN:	1610-0379
Volume:	3
Number:	2
Page Range:	105-108
Date:	1 January 2005
Official Publication:	https://doi.org/10.1111/j.1610-0378.2005.04748.x
PubMed:	View item in PubMed

Repository Staff Only: item control page