title: Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.
abstract: Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which develops into large hyperkeratotic plaques over the extremities. Mutations in the K2e gene cause epidermolytic hyperkeratosis confined to the upper spinous and granular layers, as observed in IBS. In this report, we describe a novel mutation in the keratin 2e gene in a four-generation IBS kindred of German ancestry. The mutation resides within the 2B helix termination motif of the keratin 2e gene, and extends the body of evidence implicating keratin 2e gene mutations in IBS.
authors.affiliation: Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: R
authors.initials: R
authors.lastname: Moraru
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: M E
authors.initials: ME
authors.lastname: Grossman
authors.forename: P
authors.initials: P
authors.lastname: Schneiderman
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics; D053557:Keratin-2; D007633:Keratins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense / Q000502:physiology*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C089241:KRT2 protein, human; D053557:Keratin-2; D007633:Keratins