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

Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, University of Dundee, Dundee DD1 9SY, UK, Biochemistry Laboratory, IDI-IRCCS, c/o Dept. of Experimental Medicine, University of Rome "Tor Vergata", 00133-Rome, Italy

E.L. Rugg

Cancer Research Campaign Laboratories, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dundee DD1 5EH, UK

E.B. Lane

Cancer Research Campaign Laboratories, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dundee DD1 5EH, UK

G. Melino

Biochemistry Laboratory, IDI-IRCCS, c/o Dept. of Experimental Medicine, University of Rome "Tor Vergata", 00133-Rome, Italy

D.H. Felix

Department of Oral Medicine, Glasgow Dental Hospital, Glasgow G2 3JZ

C.S. Munro

Department of Dermatology, Southern General Hospital, Glasgow G51 4TF, UK

W.H.I. McLean

Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, University of Dundee, Dundee DD1 9SY, UK

White sponge nevus (WSN) is an autosomaldominantly 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.

Key Words: K4 • K13 • mutation • white sponge nevus

Journal of Dental Research, Vol. 80, No. 3, 919-923 (2001)
DOI: 10.1177/00220345010800031401


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