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Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

Nature Genetics volume 7, pages 485–490 (1994)Cite this article

Abstract

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have indentified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re–examined for mutations in their K2e genes.

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Authors and Affiliations

  1. Departments of Cell Biology and Dermatology, Baylor College of Medicine, Houston, Texas, 77030, USA

    Joseph A. Rothnagel, Sonja Wojcik & Dennis R. Roop

  2. Department of Dermatology, University of Münster, Münster, Germany

    Heiko Traupe

  3. Department of Dermatology, University Medical Center, Lausanne, Switzerland

    Marcel Huber & Daniel Hohl

  4. Departments of Dermatology, Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, 55905, USA

    Mark R. Pittelkow

  5. Department of Dermatology, University of Tokyo, Tokyo, Japan

    Hidehisa Saeki & Yasumasa Ishibashi

Authors
  1. Joseph A. Rothnagel
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  2. Heiko Traupe
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  4. Marcel Huber
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  7. Hidehisa Saeki
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  8. Yasumasa Ishibashi
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  9. Dennis R. Roop
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Rothnagel, J., Traupe, H., Wojcik, S. et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 7, 485–490 (1994). https://doi.org/10.1038/ng0894-485

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