title: A novel mutation in the keratin 13 gene causing oral white sponge nevus.
abstract: White sponge nevus (WSN) is an autosomal-dominantly inherited form of mucosal leukokeratosis. Defects in keratins, proteins that form the stress-bearing cytoskeleton in epithelia, have been shown to cause several epithelial fragility disorders. Recently, mutations in the genes encoding mucosal-specific keratins K4 and K13 were shown to be the underlying cause of WSN. We have studied a large Scottish family with 19 persons affected by WSN in four generations. The K4 locus was excluded by genetic linkage analysis; however, genetic linkage consistent with a K13 defect was obtained. Subsequently, a heterozygous missense mutation 335A>G was detected in exon 1 of the KRT13 gene, predicting the amino acid change N112S in the 1A domain of the K13 polypeptide. The mutation was confirmed in affected family members and was excluded from 50 unaffected people by restriction enzyme analysis. These results confirm that mucosal keratin defects are the cause of WSN.
authors.affiliation: Department of Molecular and Cellular Pathology, University of Dundee, UK.
authors.forename: A
authors.initials: A
authors.lastname: Terrinoni
authors.forename: E L
authors.initials: EL
authors.lastname: Rugg
authors.forename: E B
authors.initials: EB
authors.lastname: Lane
authors.forename: G
authors.initials: G
authors.lastname: Melino
authors.forename: D H
authors.initials: DH
authors.lastname: Felix
authors.forename: C S
authors.initials: CS
authors.lastname: Munro
authors.forename: W H
authors.initials: WH
authors.lastname: McLean
mesh_terms: D000225:Adenine; D000293:Adolescent; D001216:Asparagine / Q000235:genetics; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003062:Codon / Q000235:genetics; D004848:Epithelium / Q000378:metabolism; D005091:Exons / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006147:Guanine; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007972:Leukoplakia, Oral / Q000235:genetics; D008297:Male; D009059:Mouth Diseases / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D012606:Scotland; D012694:Serine / Q000235:genetics
chemical_list: D003062:Codon; D012694:Serine; D006147:Guanine; D007633:Keratins; D001216:Asparagine; D000225:Adenine