Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma

B. Amichai*, M. Karpati, B. Goldman, L. Peleg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background. Epidermolytic palmoplantar keratoderma is an autosomal dominant inherited disorder of keratinization. Methods. We studied five members of a Jewish family with epidermolytic palmoplantar keratoderma. Genomic DNA was extracted from leucocytes, and exon 1 of the keratin 9 gene was amplified using polymerase chain reaction techniques. Results. The mutation was found in exon 1 of the keratin 9 gene in codon 160. Conclusions. Like most of the other families with clinical features of epidermolytic palmoplantar keratoderma the mutation is found in exon 1 of the keratin 9 gene.

Original languageEnglish
Pages (from-to)134-136
Number of pages3
JournalJournal of the European Academy of Dermatology and Venereology
Volume16
Issue number2
DOIs
StatePublished - 2002
Externally publishedYes

Keywords

  • Keratin 9 gene
  • Xepidermolytic palmoplantar keratoderma

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