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© 1995 Oxford University Press

OTHER

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

M.K. Shamsher*, H.A. Navsaria, H.P. Stevens, R.C. Ratnavel, P.E. Purkis, D.P. Keisell1, W.H.I. McLean2, L.J. Cook3, W.A.D. Griffiths3, S. Gschmeissner4, N. Spurr4 and I.M. Leigh

Experimental Dermatology Research Laboratory, London Hospital Medical College 56 Ashfield St, London E1 2BL 1|CRF, Clare Hall South Mimms, Herts 2Cell Structure Research Group University of Dundee DD1 4HN 3St, St John's Derrnatological Centre, St Thomas' Hospital London SW1 4ICRF EM Unit 44 LIF London WC2, UK

*To whom correspondence should be addressed

Received April 26, 1995; Revised July 17, 1995; Accepted July 17, 1995

Keratins K6 and K16 are expressed in suprabasal interfollicular epidermis in wound healing and other pathological conditions associated with hyperproliferation, such as psoriasis and are induced when keratinocytes are cultured in vitro. However, these keratins are also constitutively expressed in normal suprabasal mucosal and palmoplantar keratinocytes. Mutations in keratins have been reported in the basal keratin pair K5 and K14 In epidermolysis bullosa simplex and in suprabasal epidermal keratins Ki, K2 and K10 in epidermolytic ichthyoses. Two families with autosomal dominant disorder of focal non epidermolytic palmoplantar keratoderma, have oral mucosal and folllcular lesions in addition to the palmoplantar Hyperkeratosis. Previous studies have shown linkage in these families to the type I keratin gene cluster at 17q12–q21 and this report shows that the cDNA of affected members of both families have novel heterozygous mutations in the expressed ker atm 16 gene. These mutations (R10C and N8S) lie in the helix initiation motif of the 1A domain. These mutations do not appear to cause epidermoiysls on light or electron microscopy, which may reflect differences in function, assembly or interaction of the ‘hyperproilferative’ or ‘mucoregenerative’ keratins from other major types of keratins. The mutations reported here are the first to describe the molecular pathology of focal non epidermoiytlc palmoplantar keratoderma.


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