日本一个患有大疱性先天性鱼鳞病样红皮病的家族中KRT10基因反复出现R156H突变。

Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.

作者信息

Mayuzumi N, Shigihara T, Ikeda S, Ogawa H

机构信息

Department of Dermatology, Juntendo University, School of Medicine, Tokyo, Japan.

出版信息

J Eur Acad Dermatol Venereol. 2000 Jul;14(4):304-6. doi: 10.1046/j.1468-3083.2000.00101.x.

DOI:10.1046/j.1468-3083.2000.00101.x

PMID:11204523

Abstract

Recently, mutations of keratin 1 gene (KRT1) and keratin 10 gene (KRT10) have been reported in various patients with bullous congenital ichthyosiform erythroderma (BCIE). The substitution of arginine (R) to histidine (H) at amino acid residue 156 (R156H) of coiled 1A region is one of the most frequent mutations of KRT10. In this study, we searched for a mutation in KRT1 and KRT10 in a Japanese family with BCIE and detected mutation R156H in KRT10. Our search led to the detection of R156H. This mutation was not detected in 50 normal individuals. These results confirmed that codon 156 is a frequently mutated site, and that R156H in KRT10 is likely also to be a mutation hotspot in Japanese patients with BCIE.

摘要

最近，在各种大疱性先天性鱼鳞病样红皮病（BCIE）患者中报道了角蛋白1基因（KRT1）和角蛋白10基因（KRT10）的突变。卷曲1A区域氨基酸残基156（R156H）处精氨酸（R）被组氨酸（H）取代是KRT10最常见的突变之一。在本研究中，我们在一个患有BCIE的日本家族中搜索KRT1和KRT10的突变，并在KRT10中检测到R156H突变。我们的搜索导致了R156H的检测。在50名正常个体中未检测到该突变。这些结果证实密码子156是一个频繁突变的位点，并且KRT10中的R156H在日本BCIE患者中可能也是一个突变热点。