Conflict of interest: none declared.
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa
Article first published online: 27 MAY 2009
© 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 34, Issue 8, pages e975–e978, December 2009
How to Cite
Shi, B.-J. and Feng, J. (2009), A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. Clinical and Experimental Dermatology, 34: e975–e978. doi: 10.1111/j.1365-2230.2009.03271.x
- Issue published online: 13 NOV 2009
- Article first published online: 27 MAY 2009
- Accepted for publication 14 October 2008
Epidermolysis bullosa (EB) pruriginosa, characterized by severe itching and the presence of nodular prurigo-like or lichenoid lesions, is a rare clinical type of dystrophic EB. Mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, have been implicated in the pathogenesis of the disorder. In the present study, we screened a Chinese family with EB pruriginosa for COL7A1 mutations by PCR amplification of genomic sequences and direct nucleotide sequencing. The mutation consists of a GT substitution at nucleotide 6724 in exon 85, which leads to the substitution of glycine by tryptophan at codon 2242. This report adds new variants to the known COL7A1 mutations underlying EB pruriginosa, and provides the basis for genetic counselling and prenatal diagnosis for affected families.