关键词: 营养不良性大疱性表皮松解, DNA突变分析, 多因子遗传, COL7A1, PLEC

Abstract: 【Abstract】 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 （p.Glu4258Lys）. Conclusion Digenic mutations in the COL7A1 and PLEC genes were responsible for autosomal recessive dystrophic epidermolysis bullosa in the patient.

Key words: Epidermolysis bullosa dystrophica, DNA mutational analysis, Multifactorial inheritance, COL7A1, PLEC