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.

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

Fingerprint

Mutation
Genes
Missense Mutation
Connexin 26
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
DNA
Keratitis-Ichthyosis-Deafness Syndrome

Cite this

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title = "Connexin-26-mutation bei {"}keratitis-ichthyosis-deafness{"}-syndrom (KID-syndrom)",
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.",
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Connexin-26-mutation bei "keratitis-ichthyosis-deafness"-syndrom (KID-syndrom). / Binder, Barbara; Hennies, Hans Christian; Kraschl, Raimund; Smolle, Josef.

In: JDDG - Journal of the German Society of Dermatology, Vol. 3, No. 2, 01.02.2005, p. 105-108.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Connexin-26-mutation bei "keratitis-ichthyosis-deafness"-syndrom (KID-syndrom)

AU - Binder, Barbara

AU - Hennies, Hans Christian

AU - Kraschl, Raimund

AU - Smolle, Josef

PY - 2005/2/1

Y1 - 2005/2/1

N2 - 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.

AB - 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.

KW - Connexin 26 mutation

KW - Gap junctions

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