Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Binder, B; Hennies, HC; Kraschl, R; Smolle, J.
Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome
J Dtsch Dermatol Ges. 2005; 3(2): 105-108.
Doi: 10.1111/j.1610-0378.2005.04748.x
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Binder Barbara
- Co-Autor*innen der Med Uni Graz
- Smolle Josef
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Connexins - genetics
- Deafness - diagnosis
- Female - diagnosis
- Genetic Predisposition to Disease - genetics
- Humans - genetics
- Ichthyosis - diagnosis
- Infant - diagnosis
- Keratitis - diagnosis
- Male - diagnosis
- Mutation - diagnosis
- Syndrome - diagnosis