Mutation analysis of the COL7A1 gene in pretibial dominant dystrophic epidermolysis bullosa

Abstract

Objective To explore the role of type Ⅶ collagen (COL7A1) gene in the pathogenesis of pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt). Methods Peripheral blood samples were obtained from a sporadic Chinese patient of Han nationality with DDEB-Pt, his parents and 100 healthy human controls. A modified salting-out method was used to extract genomic DNA from the blood samples, and PCR was performed to amplify 118 exons of the COL7A1 gene followed by DNA sequencing. Results A G→A mutation was identified at position 6109(G6109A) in exon 78 of the COL7A1 gene in this patient, which caused a change from GCT to ACT at codon 2037 in the triple helix region, and resulted in the substitution of glycine (Gly) by arginine (Arg) (p.Gly2037Arg). Conclusion A novel glycine substitution mutation was identified in the COL7A1 gene in the patient with DDEB-Pt, which may be a pathogenic mutation. Key words: Epidermolysis bullosa dystrophica; Genes, dominant; Heredity; Mutation; COL7A1 gene