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作者

Yu, Yueqian Bao, Fangfang Liu, Hong Zhang, Furen

作者单位

Shandong Provincial Hospital for Skin Diseases & Shandong Academy of Medical Sciences, Jinan, 250022, China Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University &

刊名

Chinese Journal of Dermatology

年份

2020

卷号

Vol.53 No.4

页码

275

ISSN

0412-4030

摘要

Objective: To detect gene mutations in a patient with dystrophic epidermolysis bullosa and his family. Methods: Clinical data were collected from a child with dystrophic epidermolysis bullosa, and DNA was extracted from peripheral blood of the patient and his parents for whole-exome sequencing. The sequencing result was compared with previously reported sequences of genes related to dystrophic epidermolysis bullosa, the comparison results were verified by Sanger sequencing, and biological inform...更多

Objective: To detect gene mutations in a patient with dystrophic epidermolysis bullosa and his family. Methods: Clinical data were collected from a child with dystrophic epidermolysis bullosa, and DNA was extracted from peripheral blood of the patient and his parents for whole-exome sequencing. The sequencing result was compared with previously reported sequences of genes related to dystrophic epidermolysis bullosa, the comparison results were verified by Sanger sequencing, and biological information was predicted. The mutations were also verified in 100 healthy controls. Results: Compound heterozygous mutations were identified in the patient, including 3 pathogenic mutations, namely c.3625_3635 del11 and c.6270delT mutations in the COL7A1 gene and c.12772G>A mutation in the PLEC gene. The c.6270delT mutation in the COL7A1 gene and c.12772G>A mutation in the PLEC gene were novel mutations. The c.3625_3635 del11 and c.6270delT mutations in the COL7A1 gene were inherited from the patient's father, which led to premature peptide chain termination, producing a truncated protein; the c.12772G>A mutation in the PLEC gene was inherited from the patient's mother, resulting in substitution of glutamic acid by lysine at amino acid position 4258 of plectin . Conclusion: Digenic mutations in the COL7A1 and PLEC genes were responsible for autosomal recessive dystrophic epidermolysis bullosa in the patient.收起

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