中国麻风皮肤病杂志 ›› 2019, Vol. 35 ›› Issue (2): 77-79.doi: 10.12144/zgmfskin201902077

• 论著 • 上一篇    下一篇

表皮松解性掌跖角化病一家系KRT9基因突变检测

倪晓静1  周乃慧2  王建波3  李敏2   

  1. 1金华市第五医院皮肤科， 浙江金华，321000
    2苏州大学附属第一医院皮肤科，江苏苏州，215006
    3河南省人民医院皮肤科，郑州大学人民医院，河南大学临床医学院，河南郑州，450003
  • 出版日期:2019-02-20 发布日期:2019-03-07
  • 通讯作者: 李敏，E-mail: lm@suda.edu.cn 王建波，E-mail: wangjianbo1020@163.com

Mutation analysis of keratin 9 gene in a Chinese pedigree with epidermolytic palmoplantar keratoderma

NI Xiaojing1, ZHOU Naihui2, WANG Jianbo3, LI Min2   

  1. 1. Department of Dermatology, Jin Hua Fifth Hospital, Jinhua 321000, China； 
    2. Department of Dermatology, First Affiliated Hospital of Soochow University, Suzhou 215006, China； 
    3. Department of Dermatology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, School of Clinical Medicine, Henan University, Zhengzhou 450003, China
  • Online:2019-02-20 Published:2019-03-07
  • Contact: LI Min, E-mail：lm@suda.edu.cn WANG Jianbo, E-mail：wangjianbo1020@163.com

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摘要： 目的：检测一表皮松解性掌跖角化病(epidermolytic palmoplantar keratoderma，EPPK)家系中患者及其家族成员的KRT9基因突变。方法：收集该EPPK家系先证者及其家族成员临床资料，提取他们及100例无亲缘关系的健康对照外周血DNA，PCR扩增KRT9基因编码区的全部外显子及其侧翼序列，对产物直接测序，同时进行突变点的功能预测。结果：该家系所有患者的KRT9基因1号外显子第482位碱基均发生错义突变c.482A>G(p.Asn161Ser)。家系中未患病者及100名正常对照中均未发现此突变。SIFT和Polyphen-2软件预测c.482A>G(p.Asn161Ser)突变为有害变异位点。结论：KRT9基因的突变c.482A>G(p.Asn161Ser)可能是导致该家系发生表皮松解性掌跖角化病的原因。

关键词: 表皮松解性掌跖角化病, KRT9基因, 突变

Abstract: Objective: To detect the mutations of the KRT9 gene in a Chinese family with epidermolytic palmoplantar keratoderma (EPPK). Methods: Clinical data and blood samples were collected from the proband of the pedigree with EPPK and their family members. PCR was performed to amplify all coding exons and their flanking sequences of KRT9 gene followed by direct DNA sequencing. 100 unrelated healthy persons served as the controls. The function of the protein encoded by the KRT9 gene was predicted. Results: A missense mutation of c.482A>G (p.Asn161Ser) was identified in all the five affected individuals in the pedigree, but not in unaffected individuals and 100 healthy controls. The mutation was pridicted to be detrimental variation by SIFT and Polyphen-2 software. Conclusion: The mutation of c.482A>G(p.Asn161Ser) in KRT9 gene may be responsible for the phenotype of EPPK in this pedigree.

Key words: epidermolytic palmoplantar keratoderma, KRT9 gene, mutation