title: Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
abstract: Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.
authors.affiliation: Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: J A
authors.initials: JA
authors.lastname: Rothnagel
authors.forename: H
authors.initials: H
authors.lastname: Traupe
authors.forename: S
authors.initials: S
authors.lastname: Wojcik
authors.forename: M
authors.initials: M
authors.lastname: Huber
authors.forename: D
authors.initials: D
authors.lastname: Hohl
authors.forename: M R
authors.initials: MR
authors.lastname: Pittelkow
authors.forename: H
authors.initials: H
authors.lastname: Saeki
authors.forename: Y
authors.initials: Y
authors.lastname: Ishibashi
authors.forename: D R
authors.initials: DR
authors.lastname: Roop
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D053557:Keratin-2; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D010375:Pedigree
chemical_list: D017931:DNA Primers; C089241:KRT2 protein, human; D053557:Keratin-2; D007633:Keratins; D004247:DNA