Epidermolysis bullosa, dystrophic
Phenotype Details
- Phene ID
- 3347
- Name
- Epidermolysis bullosa, dystrophic
- Phene Name
- N/A
- OMIA ID
- 341
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2012
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 292 | Epidermolysis bullosa, dystrophic | 272614675 | 1 | 22 | g.51301158C>T | c.4762C>T | p.(R1588*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Rotes Höhenvieh, Germany (Cattle) | 857 | 9913 | http://purl.obolibrary.org/obo/VBO_0004642 |
| Vorderwälder, Germany (Cattle) | 204 | 9913 | http://purl.obolibrary.org/obo/VBO_0004645 |
Molecular Genetics
In a sign of the times, Menoud et al. (2012) needed only three affected Rotes Höhenvieh calves to identify the causative mutation of this disorder as being a "SNP in the bovine COL7A1 exon 49 (c.4756C>T) . . . which causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*)" Independently of the above discovery, Pausch et al. (2016) discovered exactly the same likely causal variant (now recognised to be BTA22:g.51873390C>T [UMD3.1]; c.4762C>T; p.Arg1588X) in the Vorderwald breed, for which there is no documented admixture with the Rotes Höhenvieh breed, leading them to conclude "that deleterious alleles may segregate across cattle breeds without any documented admixture".