Abstract

Background: Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1 (COL7A1) gene. Here, we identified a novel COL7A1 mutation in a Chinese family with DEB-Pr.
Methods: Blood samples were obtained from 4 affected individuals of the 16-member family for isolation of genomic DNA. The COL7A1 exons were then amplified using PCR for direct sequencing. Two unaffected family members and 50 healthy controls were also enrolled for a comparison of genetic polymorphisms.
Results: We identified a novel mutation, exon 110 c.8111G>A, P.Gly2704Glu (GGA>GAA), in all 4 affected individuals but not in the unaffected family members or healthy controls.
Conclusions: A glycine substitution specific to COL7A1, exon 110 c.8111G>A, P.Gly2704Glu (GGA>GAA), was identified in a Chinese family with DEB-Pr.

DOI: 10.7754/Clin.Lab.2016.160705