以严重掌跖角化过度为主要表现的表皮松解性角化过度症一家系报告及基因突变分析.pdfVIP

临床皮肤科杂志 2012 年41 卷第 9 期 J Clin Dermatol, September 2012, Vo 1.41 , No.9 519 论著 以严重掌距角化过度为主要表现的表皮松解性 角化过度症一家系报告及基因突变分析 曾跃平，左亚刚，苏飞，李丽，贾力，马东来，方凯 (中国医学科学院、北京协和医学院北京协和医院皮肤科，北京 100730) [摘 要] 目的:报告一个以严重掌距角化过度为主要表现的表皮松解性角化过度症(epiderm91ytic hyperkeratosis ,EHK)家系， 并检测其基因突变情况。方法:收集 1 个EHK 家系的临床资料，取先证者皮损行组织病理检查。提取先证者及其亲属外周血 DNA，应用 PCR 扩增角蛋白 1 (KRTl)、角蛋白lO(KRTlO)和角蛋白 9 (KRT9)基因编码区的全部外显子及其侧翼序列并行双向 DNA 测序，以 1∞名健康志愿者外周血DNA 作正常对照。结果:先证者皮损组织病理符合表皮松解性角化过度，所有患者的 KRTl基因第 1436 位碱基发生T→C 错义突变，导致其第 479 位氨基酸从异亮氨酸(1)变为苏氨酸(T)(p.l479T) 。家系中未受累 者和 100 名正常对照者未检测到该突变。在该家系所有成员中未检测~J KRTlO和 KRT9基因突变。结论:KRTl基因的错义突 变(8.l479T) 可能是导致该家系患者临床表型的病因。 [关键词] 表皮松解性角化过度症;角蛋白 l 基因:基因突变 [中图分类号] R758.53 [文献标识码] A [文章编号] 1000-4963(2012)09-0519-04 Epidermolytic hyperkeratosis mainly manifesting as severe palmoplantar hyperkeratosis: a pedigreer report and gene mutation analysis ZENG Yue-ping , ZUO Ya-gang , SU Fei , 11 Li , JIA Li , MA Dong-Iai , FANG Kai (Depαrt阳nt of Dermatology, Peking Union Medical College Hospital , Chinese Acαdemy of Medical Sciences Peking Union Medical College, Beijing 100730, China) [Abstract] Objective: To report a Chinese pedigree affecting with epidermolytic hyperkeratosis (EHK) mainly manifesting as severe palmoplantar hyperkeratosis and to detect gene mutations underlying the disease in this pedigree. Methods: Clinical da- ta were collected from a pedigree with EHK. Skin lesions were obtained from the proband and subjected to histological analy- sis. Polymerase chain reaction (PCR) was performed on the genomic DNA of the proband and his relatives , so as to amplify all the coding exons and their f1 anking sequences of keratin 1 (KRT1), keratin 10 (KRT lO) and keratin 9 (KRT9). Bidirectional DNA sequenc