A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis

The Japanese Journal of Human Genetics
K NomuraT Kikuchi

Abstract

Epidermolytic hyperkeratosis (EHK), or bullous congenital ichthyosiform erythroderma, is characterized by generalized erythroderma, ichthyosiform skin and blistering, and is caused by an aberration of the keratin intermediate filaments. In this study, we examined keratin K10 and 1 gene mutations in a Japanese EHK patient who had severe ichthyosiform erythroderma at birth and developed subsequent blistering. The patient had a G to A transition at codon 156 of the keratin K10 gene, which resulted in an arginine (Arg)-->histidine (His) substitution in the helix initiation peptide of the highly-conserved 1A domain in keratin K10. This is the first mutation report of a Japanese patient with EHK, although the position and mode of the mutation identified here did not differ from those in reported Western cases.

References

Aug 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·E FuchsP A Coulombe
Jan 1, 1991·Trends in Genetics : TIG·J KeenS Bhattacharya
Jan 1, 1994·Nature Genetics·J G Compton
Feb 1, 1995·Current Opinion in Cell Biology·W H McLean, E B Lane

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Citations

Feb 24, 2001·Journal of the European Academy of Dermatology and Venereology : JEADV·N MayuzumiH Ogawa
Aug 9, 2007·The Journal of Dermatology·Kunitaka HarunaShigaku Ikeda
Oct 21, 2016·Journal of the European Academy of Dermatology and Venereology : JEADV·P-J ChenX-B Zhang

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