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

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

doi:10.1111/j.1610-0378.2005.04748.x

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 journal › Article › peer-review

13 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 contribution	Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome
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	https://doi.org/10.1111/j.1610-0378.2005.04748.x
Publication status	Published - 1 Feb 2005
Externally published	Yes

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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.",

keywords = "Connexin 26 mutation, Gap junctions, KID syndrome",

author = "Barbara Binder and Hennies, \{Hans Christian\} and Raimund Kraschl and Josef Smolle",

year = "2005",

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doi = "10.1111/j.1610-0378.2005.04748.x",

language = "German",

volume = "3",

pages = "105--108",

journal = "JDDG - Journal of the German Society of Dermatology",

issn = "1610-0379",

publisher = "Wiley-Blackwell",

number = "2",

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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

KW - KID syndrome

UR - https://www.scopus.com/pages/publications/13844264531

U2 - 10.1111/j.1610-0378.2005.04748.x

DO - 10.1111/j.1610-0378.2005.04748.x

M3 - Article

C2 - 16351012

AN - SCOPUS:13844264531

SN - 1610-0379

VL - 3

SP - 105

EP - 108

JO - JDDG - Journal of the German Society of Dermatology

JF - JDDG - Journal of the German Society of Dermatology

IS - 2

ER -

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

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