[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].
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.


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.
Binder
Barbara
B
Univ.-Klinik für Dermatologie und Venerologie, Graz, Osterreich. barbara.binder@klinikum-graz.at
Hennies
Hans Christian
HC
Kraschl
Raimund
R
Smolle
Josef
J
D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D007223:Infant; D007634:Keratitis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D008297:Male; D009154:Mutation; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26