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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Nature Genetics volume 6, pages 174–179 (1994)Cite this article

Abstract

We have isolated the gene for human type I keratin 9 (KRT9) and localised it to chromosome 17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK), an autosomal dominant skin disease, were investigated. Three KRT9 mutations, N160K, R162Q, and R162W, were identified. All the mutations are in the highly conserved coil 1A of the rod domain, thought to be important for heterodimerisation. R162W was detected in five unrelated families and affects the corresponding residue in the keratin 14 and keratin 10 genes that is also altered in cases of epidermolysis bullosa simplex and generalised epidermolytic hyperkeratosis, respectively. These findings provide further evidence that mutations in keratin genes may cause epidermolysis and hyperkeratosis and that hyperkeratosis of palms and soles may be caused by different mutations in the KRT9 gene.

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Authors and Affiliations

  1. Institute of Human Genetics, Free University, Heubnerweg 6, D-14059, Berlin, Germany

    André Reis, Hans-Christian Hennies, Martin Digweed & Karl Sperling

  2. Division of Cell Biology, German Cancer Research Center, Im Neuenheimer Feld 280, D-69120, Heidelberg, Germany

    Lutz Langbein & Werner W. Franke

  3. Institute of Experimental Oncology and Transplantation Medicine, Free University, Spandauer Damm 130, D-14050, Berlin, Germany

    Dietmar Mischke

  4. Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 328, D-69120, Heidelberg, Germany

    Matthias Drechsler, Evelin Schröck & Brigitte Royer-Pokora

  5. Department of Dermatology, University Marburg, Deutschhausstr. 9, D-35037, Marburg, Germany

    Wolfang Küster

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  1. André Reis
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Reis, A., Hennies, HC., Langbein, L. et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 6, 174–179 (1994). https://doi.org/10.1038/ng0294-174

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