title: A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
abstract: Ichthyosis bullosa of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma. The clinical features are less marked than those of bullous congenital ichthyosiform erythroderma with relatively mild hyperkeratosis usually limited to the skin flexures. Mutations in the epithelial cytokeratin 2e (K2e), which is expressed in a differentiation-specific fashion in the upper spinous and granular layers of the epidermis, have been shown to cause IBS. We detected a novel mutation in a three generation kindred with IBS (1448T-->A) within exon 7 of the KRT2E gene. This is predictive of an I483N substitution in the 2B domain of K2e. This extends the range of mutations reported to date and illustrates the usefulness of molecular genetics in the diagnosis of this disorder.
authors.affiliation: Department of Dermatology, Great Ormond Street Hospital for Children, London, UK. irv067@hotmail.com
authors.forename: A D
authors.initials: AD
authors.lastname: Irvine
authors.forename: F J
authors.initials: FJ
authors.lastname: Smith
authors.forename: K W
authors.initials: KW
authors.lastname: Shum
authors.forename: H C
authors.initials: HC
authors.lastname: Williams
authors.forename: W H
authors.initials: WH
authors.lastname: McLean
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D053557:Keratin-2; D007633:Keratins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics
chemical_list: C089241:KRT2 protein, human; D053557:Keratin-2; D007633:Keratins