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Keratin 16 and keratin 17 mutations cause pachyonychia congenita.

McLean W.H.I., Rugg E.L., Lunny D.P., Morley S.M., Lane E.B., Swensson O., Dopping-Hepenstal P.J.C., Griffiths W.A.D., Eady R.A.J., Higgins C., Navsaria H.A., Leigh I.M., Strachan T., Kunkeler L., Munro C.S., et al.

Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.

Nat. Genet. 9:273-278(1995) [PubMed] [Europe PMC]