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.
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.