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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Nature Genetics volume 9, pages 273–278 (1995)Cite this article

Abstract

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.

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Authors and Affiliations

  1. CRC Cell Structure Research Group, Cancer Research Campaign, Laboratories, Deft of Anatomy & Physiology, Medical Sciences Institute, University of Dundee, Dundee, DD1 4HN, UK

    W.H.I. McLean, E.L. Rugg, D.P. Lunny, S.M. Morley & E.B. Lane

  2. St. John's Institute of Dermatology, United Medical and Dental Schools, St. Thomas's Hospital, London, SE1 7EH, UK

    O. Swensson, P.J.C. Dopping-Hepenstal, W.A.D. Griffiths & R.A.J. Eady

  3. Experimental Dermatology Laboratories, Medical College of the Royal London Hospital, London, El 6BL, UK

    C. Higgins, H.A. Navsaria & I.M. Leigh

  4. Department of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, NE1 7RU, UK

    T. Strachan

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

    L. Kunkeler & C.S. Munro

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  1. W.H.I. McLean
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McLean, W., Rugg, E., Lunny, D. et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 9, 273–278 (1995). https://doi.org/10.1038/ng0395-273

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