China Journal of Leprosy and Skin Diseases ›› 2019, Vol. 35 ›› Issue (5): 269-272.doi: 10.12144/zgmfskin201905269

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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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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