Abstract:

Objective      To study the genotype-phenotype correlation of dystrophic epidermolysis bullosa with COL7A1 mutations. Methods     14 dystrophic epidermolysis bullosa families were collected, and immunofluorescence and electron microscopy were processed from skin biopsies. Venous blood samples were collected and genomic DNA was extracted. COL7A1 was screened for sequence mutations. Results     Three dominant cases resulted from COL7A1 missense mutation. Among Hallopeau-Sieme cases, four combined two premature termination codon(PTC) mutations and three combined PTC and spice-site or glycine substitution variants. PTC and missense mutation resulted in non Hallopeau-Sieme cases in our study. Conclusion      Dominant type usually involves glycine substitutions， while the recessive type involves nonsense, splice site, internal deletions or insertions mutations.

Key words: COL7A1 gene; Dystrophic epidermolysis bullosa; Mutations