中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (10): 677-679.

• 论著 • 上一篇    下一篇

一例Kindler综合征患者皮损超微结构及FERMT1基因突变分析

林志淼1,谭燕红2,马志红3,陈荃2,王云1,汤秀英2,王素霞2,杨勇1   

  1. 1. 北京大学第一医院皮肤科
    2.
    3. 黑龙江省牡丹江医学院附属医院皮肤科
  • 收稿日期:2010-02-26 修回日期:2010-05-14 出版日期:2010-10-15 发布日期:2010-10-09
  • 通讯作者: 杨勇 E-mail:dryongyang@bjmu.edu.cn
  • 基金资助:

    北京市科技新星计划

Ultrastructure of skin lesions and mutations in the FERMT1 gene in a patient with Kindler syndrome

  • Received:2010-02-26 Revised:2010-05-14 Online:2010-10-15 Published:2010-10-09
  • Contact: Yong Yang E-mail:dryongyang@bjmu.edu.cn

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摘要：

目的 检测1例Kindler综合征患者皮损超微结构改变以及FERMT1基因突变。方法 收集患者临床资料，取患处皮肤进行透射电镜检查明确其超微结构的变化。提取患者及其相关亲属外周血DNA，采用PCR扩增FERMT1基因编码区的全部外显子及其侧翼序列并测序。结果 患者皮损电镜检查显示致密板高度复制；基因检测发现患者FERMT1基因9号内含子剪切位点发生IVS9 + 1G > A纯合突变，父母为相应突变的杂合携带者，50例无关正常对照者未见该突变。结论 透射电镜可作为Kindler综合征患者确诊的辅助检查之一；FERMT1基因9号内含子剪切位点发生IVS9 + 1G > A纯合突变可能为引起该患者临床表现的病因。

关键词: Kindler综合征, FERMT1, 基因突变, 致密板复制

Abstract:

Objective To study cutaneous ultrastructural changes and FERMT1 gene mutations in a patient with Kindler syndrome. Methods Clinical data were collected, and tissue samples obtained from the lesions of poikiloderma were observed by using transmission electron microscopy. Fifteen coding exons and their flanking sequences of the FERMT1 gene were amplified by PCR and DNA sequencing was followed. Results Reduplication of lamina densa was seen between the dermal-epidermal junctions of the lesional skin. The patient was found to be homozygous for a novel splice-site mutation （IVS9 + 1G > A） in FERMT1 gene, and his parents were heterozygous for it. The mutation was undetected in fifty normal control individuals. Conclusions Transmission electron microscopy may serve as an ancillary examination for the diagnosis of Kindler syndrome. The IVS9+1G>A mutation of FERMT1 gene may contribute to the clinical phenotype of Kindler syndrome in this patient.

Key words: Kindler Syndrome, FERMT1 Gene, Gene Mutation, Reduplication of Lamina Densa