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

Research output: Contribution to journalArticle

207 Citations (Scopus)

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.

LanguageEnglish
Pages174-179
Number of pages6
JournalNature Genetics
Volume6
Issue number2
DOIs
Publication statusPublished - 1 Feb 1994
Externally publishedYes

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Keratoderma, Palmoplantar, Epidermolytic
Keratin-9
Mutation
Genes
Type I Keratin
Epidermolytic Hyperkeratosis
Keratin-10
Epidermolysis Bullosa Simplex
Keratin-14
Keratins
Skin Diseases
Chromosomes

Cite this

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
Reis, André ; Hennies, Hans Christian ; Langbein, Lutz ; Digweed, Martin ; Mischke, Dietmar ; Drechsler, Matthias ; Schröck, Evelin ; Royer-Pokora, Brigitte ; Franke, Werner W. ; Sperling, Karl ; Küster, Wolfang. / Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). In: Nature Genetics. 1994 ; Vol. 6, No. 2. pp. 174-179.
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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.",
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Reis, A, Hennies, HC, Langbein, L, Digweed, M, Mischke, D, Drechsler, M, Schröck, E, Royer-Pokora, B, Franke, WW, Sperling, K & Küster, W 1994, 'Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)', Nature Genetics, vol. 6, no. 2, pp. 174-179. https://doi.org/10.1038/ng0294-174

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). / Reis, André; Hennies, Hans Christian; Langbein, Lutz; Digweed, Martin; Mischke, Dietmar; Drechsler, Matthias; Schröck, Evelin; Royer-Pokora, Brigitte; Franke, Werner W.; Sperling, Karl; Küster, Wolfang.

In: Nature Genetics, Vol. 6, No. 2, 01.02.1994, p. 174-179.

Research output: Contribution to journalArticle

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AU - Digweed, Martin

AU - Mischke, Dietmar

AU - Drechsler, Matthias

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AU - Franke, Werner W.

AU - Sperling, Karl

AU - Küster, Wolfang

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Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nature Genetics. 1994 Feb 1;6(2):174-179. https://doi.org/10.1038/ng0294-174