title: A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.
abstract: We report the sixth case of a human keratin 14 'knockout' mutation resulting in recessive epidermolysis bullosa simplex (EBS). A novel, homozygous nonsense mutation resulting from a deletion/insertion mutation (744delC/insAG) leads to a premature termination codon in the KRT14 gene (Y248X). The patient suffers from generalized cutaneous blistering since birth, mild nail dystrophy, involvement of mucous membranes and multiple epidermolysis bullosa naevi. The clinical variability noted in K14-deficient EBS patients suggests phenotypic modulation by additional genetic and/or epigenetic factors.
authors.affiliation: Department of Dermatology, General Hospital Salzburg, Salzburg, Austria.
authors.forename: C M
authors.initials: CM
authors.lastname: Lanschuetzer
authors.forename: A
authors.initials: A
authors.lastname: Klausegger
authors.forename: G
authors.initials: G
authors.lastname: Pohla-Gubo
authors.forename: R
authors.initials: R
authors.lastname: Hametner
authors.forename: G
authors.initials: G
authors.lastname: Richard
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: H
authors.initials: H
authors.lastname: Hintner
authors.forename: J W
authors.initials: JW
authors.lastname: Bauer
mesh_terms: D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000235:genetics*; D008297:Male
chemical_list: D018389:Codon, Nonsense; C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins