Original Article

Journal of Investigative Dermatology (1997) 109, 113–115; doi:10.1111/1523-1747.ep12276751

A Novel Mutation of a Leucine Residue in Coil 1A of Keratin 9 in Epidermolytic Palmoplantar Keratoderma

Hideharu Endo, Atsushi Hatamochi and Hiroshi Shinkai

Department of Dermatology, Chiba University School of Medicine, Chiba, Japan

Received 4 December 1996; Revised 18 March 1997; Accepted 24 March 1997.

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Abstract

Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically. We report herein a novel mutation, a C -right arrow G transversion at nucleotide position 541 that converts a leucine residue (CTC) to a valine (GTC) at codon 159. As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.

Keywords:

helix initiation motif, keratin intermediate filament

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References

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