一例Kindler综合征患者皮损超微结构及FERMT1基因突变分析  

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

作　　者：林志淼[1] 谭燕红[1] 马志红[3] 陈荃[1] 王云[1] 汤秀英[2] 王素霞[2] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,100034 [2]北京大学第一医院电镜室,100034 [3]牡丹江医学院附属医院皮肤科

出　　处：《中华皮肤科杂志》2010年第10期677-679,共3页Chinese Journal of Dermatology

基　　金：北京市科技新星计划（2007B006）

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.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.

关 键 词：Kindler综合征 FERMT1基因 DNA突变分析 显微镜检查 电子 透射 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]