title: [Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
abstract: Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin disorders caused by mutations in the keratin genes K5 or K14. We examined five Danish families with EBS-Weber-Cockayne (WC) or EBS-Koebner (K) and two sporadic cases of EBS-Dowling-Meara (DM) in order to investigate the mutational spectrum and evaluate the genotype-phenotype correlation in Danish patients. Three new K14 mutations, one new and one previously described K5 mutation were identified by DNA sequence analysis. The positions of the EBS-DM mutations were consistent with previous studies, whereas the EBS-WC and EBS-K mutations were found in regions of the keratin genes not typically associated with this type of EBS mutations. In conclusion, we found a strict genotype-phenotype correlation. Furthermore, we found that the position of the mutation in the keratin gene is not the only determinant for severity of the disease; the nature of the amino acid substitution should also be considered when predicting the severity of the EBS disorder.
authors.affiliation: Arhus Universitetshospital, Skejby Sygehus, Molekylaer Medicinsk Forskningsenhed.
authors.forename: C B
authors.initials: CB
authors.lastname: Sørensen
authors.forename: A S
authors.initials: AS
authors.lastname: Ladekjaer-Mikkelsen
authors.forename: B S
authors.initials: BS
authors.lastname: Andresen
authors.forename: F
authors.initials: F
authors.lastname: Brandrup
authors.forename: N K
authors.initials: NK
authors.lastname: Veien
authors.forename: S K
authors.initials: SK
authors.lastname: Buus
authors.forename: I
authors.initials: I
authors.lastname: Anton-Lamprecht
authors.forename: T
authors.initials: T
authors.lastname: Kruse
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
authors.forename: H
authors.initials: H
authors.lastname: Eiberg
authors.forename: L
authors.initials: L
authors.lastname: Bolund
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
mesh_terms: D004252:DNA Mutational Analysis; D003718:Denmark; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007633:Keratins / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D007633:Keratins