The COL7A1 gene, which encodes type VII collagen, has been implicated as a candidate gene for dominantly and recessively inherited forms of dystrophic epidermolysis bullosa.
The results demonstrate that transcription of the COL7A1 gene occurs in these patients with severe mutilating EBD and suggest that post-transcriptional or post-translational events lead to absence of collagen VII protein from skin.
Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1.
We recently demonstrated strong genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa.
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
Mutations within the gene encoding the anchoring fibril protein type VII collagen (COL7A1) have recently been established as the pathogenetic basis for the inherited blistering skin disorder, dystrophic epidermolysis bullosa.
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Given the high relative frequency of these two COL7A1 mutations, British patients with recessive DEB should be screened initially for these nucleotide changes by PCR amplification of genomic DNA and restriction analysis before more exhaustive screening of COL7A1.
Knowledge of the genetic lesions in this patient is helpful in elucidating the molecular consequences of COL7A1 mutations in dystrophic epidermolysis bullosa and in providing information about the fundamental mechanisms involved in maintaining adhesion between the epidermis and the dermis.
In this study, we searched for mutations in a proband with a mild form of DEB by PCR amplification of segments of COL7A1, followed by heteroduplex analysis.
This is the first demonstration of a COL7A1 mutation in DDEB-P, and brings the total number of dominant DEB variants with underlying glycine substitutions in COL7A1 to five, including the pretibial and localized variants as well as the Bart's syndrome, in addition to DDEB-P and DDEB-CT.