Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

André Reis, Hans Christian Hennies, Lutz Langbein, Martin Digweed, Dietmar Mischke, Matthias Drechsler, Evelin Schröck, Brigitte Royer-Pokora, Werner W. Franke, Karl Sperling, Wolfang Küster

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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.

Original languageEnglish
Pages (from-to)174-179
Number of pages6
JournalNature Genetics
Volume6
Issue number2
DOIs
Publication statusPublished - 1 Feb 1994
Externally publishedYes

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Reis, A., Hennies, H. C., Langbein, L., Digweed, M., Mischke, D., Drechsler, M., ... Küster, W. (1994). Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nature Genetics, 6(2), 174-179. https://doi.org/10.1038/ng0294-174