A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

摘要: White sponge nevus (WSN) is an autosomaldominantly inherited form of mucosal leukokeratosis. Defects in keratins, proteins that the stress-bearing cytoskeleton epithelia, have been shown to cause several epithelial fragility disorders. Recently, mutations genes encoding mucosal-specific keratins K4 and K13 were be underlying WSN. We studied a large Scottish family with 19 persons affected by WSN four generations. The locus was excluded genetic linkage analysis; however, consistent defect obtained. Subsequently, heterozygous missense mutation 335A>G detected exon 1 KRT13 gene, predicting amino acid change N112S 1A domain polypeptide. confirmed members from 50 unaffected people restriction enzyme analysis. These results confirm keratin defects are