title: [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].
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.
  
  
  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.
authors.affiliation: Univ.-Klinik für Dermatologie und Venerologie, Graz, Osterreich. barbara.binder@klinikum-graz.at
authors.forename: Barbara
authors.initials: B
authors.lastname: Binder
authors.forename: Hans Christian
authors.initials: HC
authors.lastname: Hennies
authors.forename: Raimund
authors.initials: R
authors.lastname: Kraschl
authors.forename: Josef
authors.initials: J
authors.lastname: Smolle
mesh_terms: 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
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26