title: A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.
abstract: Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies the gene in normal corneal function, hair growth, and carcinogenesis.
authors.affiliation: Department of Dermatology, University Medical Center Nijmegen, The Netherlands. m.vansteensel@derma.azn.nl
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
authors.forename: Marc
authors.initials: M
authors.lastname: Nahuys
authors.forename: J Henk Sillevis
authors.initials: JH
authors.lastname: Smitt
authors.forename: Peter M
authors.initials: PM
authors.lastname: Steijlen
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics; D000595:Amino Acid Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007634:Keratitis / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics
chemical_list: D017630:Connexins; D000072259:Connexin 26