Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

Hans Christian Hennies, Dirk Zehender, Jürgen Kunze, Wolfgang Küster, André Reis

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated patients with EPPK, and mutation Q171P was shown to cosegregate with the disease in a large four-generation family. These findings confirm the functional importance of coil 1A integrity for heterodimerisation in keratins and for intermediate filament assembly. Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis.

Original languageEnglish
Pages (from-to)649-654
Number of pages6
JournalHuman Genetics
Volume93
Issue number6
DOIs
Publication statusPublished - Jun 1994
Externally publishedYes

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