Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations
| Authors | |
|---|---|
| Year of publication | 2010 |
| Type | Article in Periodical |
| Magazine / Source | JOURNAL OF DERMATOLOGICAL SCIENCE |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | COL7A1; epidermolysis bullosa dystrophica; mutation analysis; immunohistochemical analysis |
| Description | Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder where blistering occurs in the sublamina densa zone at the level of anchoring fibrils of the dermo-epidermal junction zone. Both autosomal dominant (DDEB) and recessive (RDEB) forms result from mutations in the type VII collagen gene (COL7A1). The purpose of this study was to analyse the COL7A1 gene and perform genotype-phenotype correlations in Czech patients with DEB. DNA analysis of the COL7A1 gene was performed in 27 probands with diagnosis of RDEB and 6 probands with diagnosis of DDEB. 29 different sequence variants were found, ten of which have not been reported previously In the set of our RDEB patients, the most frequent mutation was the splice site mutation c.425A>G (29,6% of RDEB mutant alleles) |
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