De novo mutation of keratin 9 gene in two Taiwanese patients with epidemiolytic palmoplantar keratoderma

Mei Hui Yang, Yu-Yun Lee, Jeng Hsien Lin, Sheau-Chiou Chao

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant hereditary disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (K9). We report 2 unrelated sporadic cases of EPPK in Taiwanese, confirmed by histopathology and electron microsopy. A de novo mutation a C to transition at the first nucleotide of codon 162 in K9 was detected in both patients, but not in their parents. The mutation is expected to result in an arginine to tryptophan substitution (R162W) in the beginning region of the α-helical 1A domain of K9. Mutations in this region could disrupt keratin filament assembly, leading to degenerations or cytolysis of keratinocytes. Mutations of this arginine codon (R162QW, R162Q) are common in pedigrees with EPPK. Our mutations analysis suggests that codon 162 in K9 gene is an important hot spot for mutation in EPPK.

Original languageEnglish
Pages (from-to)492-496
Number of pages5
JournalJournal of the Formosan Medical Association
Volume102
Issue number7
Publication statusPublished - 2003 Jul 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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