中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (7): 416-418.

• 论著 • 上一篇    下一篇

泛发性萎缩性良性大疱性表皮松解症一家系报道及其致病基因BPAG2突变研究

王娣, 吴艳, 王云, 卜定方, 武玲慎, 涂平, 朱学骏   

  1. 北京大学第一医院皮肤科 100034
  • 收稿日期:2004-07-06 发布日期:2005-07-15
  • 基金资助:
    教育部教育振兴行动计划专项基金资助项目(985工程)

Report of a Gneralized Atrophic Benign Epidermolysis Bullosa Family and COL17A1 Mutation Analysis

WANG Di, WU Yan, WANG Yun, BU Ding-fang, WU Ling-shen, TU Ping, ZHU Xue-jun   

  1. Department of Dermatovenereology, Beijing University First Hospital, Beijing 100034, China
  • Received:2004-07-06 Published:2005-07-15

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摘要： 目的 报道一个泛发性萎缩性良性大疱性表皮松解症家系,验证其缺陷蛋白,并研究相应基因突变。方法 根据临床表现及辅助检查确诊本病,结合电镜及免疫荧光发现缺陷蛋白为BPAG2,对家系中患者及正常人BPAG2基因COL17Al的56个外显子进行PCR扩增,产物直接测序。结果 家系中2例患者COLJ17A1第52个外显子第3897-3900位4个密码子ATCT纯合缺失,导致其后开放阅读框移位及其下游第31位碱基处出现提前终止密码;患者表型正常的父母检测到同一位置该小片段的杂合性缺失。结论 3897delATCT为本患者的致病性基因突变,并可能导致"无义突变介导的mRNA降解",使BPAG2表达缺失。

关键词: 表皮松解,大疱性, 突变, BPAG2, COL17A1

Abstract: Objectives To report a generalized atrophic benign epidermolysis bullosa family,identify the deficient protein and related pathogenic gene mutation.Methods The diagnosis was confirmed based on clinical manifestations and necessary examinations.Electron microscopy and immunofluorescent staining were used to detect the deficient protein.The pathogenic gene mutation was identified by PCR amplification of ge-nomic DNA with primers targeting the flanking introns,followed by direct automated sequencing.Results In the family,the affected individuals were homozygous for a novel 4-bp deletion in COL17A1,3897delATCT,which resulted in a downstream premature termination codon.Conclusions 3897delATCT of COL17A1 is the pathogenic gene mutation in the patients and probably results in nonsense-mediated mRNA decay and abrogation of type XⅦ collagen synthesis,as documented in the literature.

Key words: Epidermolysis bullosa, Mutation, BPAG2, COL17A1