中华皮肤科杂志 ›› 2018, Vol. 51 ›› Issue (3): 186-188.doi: 10.3760/cma.j.issn.0412-4030.2018.03.005

• 论著 • 上一篇    下一篇

一对先天性大疱性鱼鳞病样红皮病双胞胎患者表型与角蛋白1基因突变研究

王建波1,雷东春2,王伟霞2,李建国2,李雪莉1,李敏3,张守民1,李振鲁4   

  1. 1. 河南省人民医院皮肤科
    2. 河南省人民医院
    3. 苏州大学附属第一医院
    4. 郑州市河南省人民医院皮肤科
  • 收稿日期:2017-04-17 修回日期:2017-05-24 出版日期:2018-03-15 发布日期:2018-03-06
  • 通讯作者: 张守民 E-mail:zhangshoumin@gmail.com
  • 基金资助:
    河南省医学科技攻关计划项目;上海市教委高峰高原计划-“研究型医师”项目;苏州市应用基础研究计划项目

Analysis of keratin 1 gene mutation and phenotypes in a pair of twins with bullous congenital ichthyosiform erythroderma

JianBo WANG1, 2,Wei-Xia WANG3,Jian-Guo LiXue-li XUELI 2,   

  • Received:2017-04-17 Revised:2017-05-24 Online:2018-03-15 Published:2018-03-06
  • Supported by:
    Medical Science and Technique Foundation of Henan Province;Applied Basic Research Programs of Department of Science and Technology of Suzhou

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摘要： 目的 检测先天性大疱性鱼鳞病样红皮病双胞胎患者角蛋白1、10（KRT1、KRT10）基因突变情况，探讨致病基因与表型间的关系。方法 收集1对先天性大疱性鱼鳞病样红皮病双胞胎患者及家族成员的临床资料。提取该双胞胎患者及其兄、父、母的外周血DNA，PCR扩增KRT1和KRT10基因编码区全部外显子及其侧翼序列并测序，以100例健康人作为对照。结果 先证者男，11岁，全身皮肤反复起水疱、肥厚伴脱屑11年；其双胞胎弟弟有类似皮损。2例患者KRT1基因1号内含子第1位碱基发生突变（c.591 + 1G > A），而家系中3例正常成员和无亲缘关系的100例健康对照均未发现该突变。结论 KRT1基因1号内含子第1位碱基突变（c.591 + 1G > A）可能为引起该双胞胎患者临床表型的病因。

关键词: 鳞癣样红皮病, 先天性, 角蛋白1, 角蛋白10, DNA突变分析, 维甲酸

Abstract: Wang Jianbo, Lei Dongchun, Wang Weixia, Li Jian′guo, Li Xueli, Li Min, Li Ming, Zhang Shoumin, Li Zhenlu Department of Dermatology, Henan Provincial People′s Hospital, Zhengzhou University People′s Hospital, Zhengzhou 450003, China （Wang JB, Lei DC, Wang WX, Li JG, Li XL, Zhang SM, Li ZL）; Department of Dermatology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China （Li M）; Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China （Li M） Corresponding authors: Zhang Shoumin, Email: henanpifu@sina.com; Li Min, Email: lm@suda.edu.cn 【Abstract】 Objective To identify mutations in keratin genes （KRT1 and KRT10） in a pair of twins with bullous congenital ichthyosiform erythroderma（BCIE）, and to explore the relationship between the causative genes and phenotypes. Methods Clinical data were collected from a pair of twins with BCIE and their family members. Peripheral blood samples were obtained from the twins, their old brother and parents, and DNA was extracted from these blood samples. Polymerase chain reaction（PCR）was performed to amplify all the coding exons and their flanking sequences of the KRT1 and KRT10 genes, and 100 unrelated healthy persons served as controls. Results The 11-year-old male proband presented with recurrent blisters, hypertrophy and desquamation all over the body for 11 years. His twin brother had similar skin lesions. Skin examination of the proband showed diffuse erythema covered with thick scaly crusts on the trunk and extremities. Blisters, bullae and erosions due to ruptured blisters were observed locally with tenderness on palpation. There were obvious hyperkeratotic and hard lesions on the big joints of the extremities. Diffuse hyperkeratosis could be seen on the palms and soles. A mutation c.591 + 1G > A was identified at position 1 in intron 1 of the KRT1 gene in the twins, but not in the 3 healthy family members or the 100 unrelated healthy controls. Conclusion The mutation c.591 + 1G > A at position 1 in intron 1 of the KRT1 gene may contribute to the clinical phenotype of the twins with BCIE.

Key words: Ichthyosiform erythroderma, congenital, Keratin-1, Keratin-10, DNA mutational analysis