Journal of Dental Research, Vol 80, 919-923, Copyright © 2001 by International & American Associations for Dental Research Online Journals
A novel mutation in the keratin 13 gene causing oral white sponge nevus
A. Terrinoni, E. L. Rugg, E. B. Lane, G. Melino, D. H. Felix, C. S. Munro and W. H. McLean
Department of Molecular and Cellular Pathology, University of Dundee, UK.
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.
