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.
|Number of pages||5|
|Journal||Journal of the Formosan Medical Association|
|Publication status||Published - 2003 Jul|
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