257 A novel mutation of COL7A1 in a Chinese family with dystrophic epidermolysis bullosa pruriginosa

Abstract

Background: Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by papules, pruritus and scratches. It was caused by the mutation of COL7A1 gene encoding type VII collagen fibers, resulting in the destruction of the anchoring structure of the epidermis and dermis. Methods: Histopathological examination and blood sample for the whole-exon sequencing (WES) were performed on the proband. Then we collected blood samples from other 3affected family members, 4unaffected members and 50 healthy controls to verify the mutation of COL7A1. Result: Characteristic clinical manifestations such as papules, pruritus and scratches were found in 4patientsof the familywith different degrees of severity. A novel heterozygous mutation of COL7A1 in exon 69 c.5765G>A, p.G1922E, which has never been reported before, was detected in all patients in the family, but not in the unaffected members of the family or healthy controls. Conclusion: Our study suggests that c.5765G>A mayinfluence the phenotype of PEB, expanding the database of COL7A1 mutations, and providing more basis for the molecular diagnosis, precise treatment and disease prediction of DEB-Pr.