Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T
Department of Dermatology, Hirosaki University School of Medicine, Japan.
Jpn J Hum Genet. 1997 Mar;42(1):217-23. doi: 10.1007/BF02766925.
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.
表皮松解性角化过度（EHK），又称大疱性先天性鱼鳞病样红皮病，其特征为全身性红皮病、鱼鳞病样皮肤和水疱形成，由角蛋白中间丝异常引起。在本研究中，我们检测了一名日本EHK患者的角蛋白K10和1基因突变情况，该患者出生时患有严重的鱼鳞病样红皮病，随后出现水疱。该患者角蛋白K10基因第156密码子发生了G到A的转换，导致角蛋白K10高度保守的1A结构域螺旋起始肽中的精氨酸（Arg）被组氨酸（His）取代。这是首例日本EHK患者的突变报告，尽管此处鉴定的突变位置和方式与报道的西方病例相同。
