中国麻风皮肤病杂志 ›› 2019, Vol. 35 ›› Issue (5): 269-272.doi: 10.12144/zgmfskin201905269

• 论著 • 上一篇    下一篇

一例交界型大疱性表皮松解症患儿LAMA3基因突变检测

孔祥生1,2  刘江波3  陈付英4  胡小华2  李明4   

  1. 1上海安百隆生物科技有限公司，上海，201109
    2复旦大学生命科学学院，上海，200433
    3深圳市宝安区妇幼保健院皮肤科，深圳，518102
    4上海交通大学医学院附属新华医院皮肤科，上海，200092
  • 出版日期:2019-05-15 发布日期:2019-06-03
  • 通讯作者: 胡小华，E-mail: xhhu@fudan.edu.cn 李明，E-mail: liming01@xinhuamed.com.cn

Mutations of LAMA3 gene in a child with junctional epidermolysis bullosa

KONG Xiangsheng1,2, LIU Jiangbo3, CHEN Fuying4,HU Xiaohua2, LI Ming4   

  1. 1 Shanghai Aberlong Biological Technology Co., Ltd, Shanghai 201109, China; 
    2 School of Life Sciences, Fudan University, Shanghai 200433, China; 
    3 Department of Dermatology, Bao'an Maternal and Child Health Hospital, Shenzhen, Guangdong 518102, China; 
    4 Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
  • Online:2019-05-15 Published:2019-06-03
  • Contact: HU Xiaohua, E-mail：xhhu@fudan.edu.cn LI Ming, E-mail：liming01@xinhuamed.com.cn

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摘要： 目的：检测1例交界型大疱性表皮松解症患儿LAMA3基因突变情况。方法：提取1例交界型大疱性表皮松解症患儿及其父母的外周血DNA，通过靶向捕获-高通量测序检测患儿的基因突变，用Sanger测序法进行父母验证，同时通过cDNA测序来验证异常的RNA剪接。结果：在患儿LAMA3基因上检测到两个新的影响RNA剪接的突变，即c.1478+5G>A(导致在mRNA上c.1381_1478del)和c.4647+5G>C(导致在mRNA上c.4647_4648ins74)，患儿的这2个突变分别遗传自其父亲和母亲。结论：本次检测到的LAMA3基因上的2个致病突变，可能因严重破坏层粘连蛋白-332的功能性α3肽链的合成而导致患儿发病。

关键词: 交界型大疱性表皮松解症, LAMA3基因

Abstract: Objective: To detect mutations in a child with junctional epidermolysis bullosa. Methods: DNA was extracted from 2mL peripheral blood in the patient and his parents. Mutations were detected by targeted region and high-throughput sequencing in the patient and were confirmed by Sanger dideoxy sequencing in the parents. Then aberrant RNA splicing was confirmed by cDNA sequencing. Results: Two novel mutations of c.1478+5G>A (c.1381_1478del) and c.4647+5G>C (c.4647_4648ins74) were detected in the patients and his parents. Conclusion: The two mutations in LAMA3 gene may disrupt the production of functional alpha-3 chains of laminin-332 proteins,,leading to the phenotype of the disease.

Key words: junctional epidermolysis bullosa, LAMA3 gene