Epidermolysis bullosa simplex, KRT5-related
Phenotype Details
- Phene ID
- 3985
- Name
- Epidermolysis bullosa simplex, KRT5-related
- Phene Name
- N/A
- OMIA ID
- 2081
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2005
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| KRT5 | 281268 | 5 | keratin 5, type II |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 192 | Epidermolysis bullosa | 281268 | 1 | 5 | NC_037332.1:g.27371128G>A | NM_001008663.1:c.1432G>A | NP_001008663.1:p.(E478K) |
| 1265 | Epidermolysis bullosa, simplex, KRT5-related` | 281268 | 1 | 5 | NC_037332.1:g.27367611_27367613del | NM_001008663.1:c.534_536del | NP_001008663.1:p.(N178del) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
| Friesian cross (Cattle) | 1035 | 9913 | http://purl.obolibrary.org/obo/VBO_0016846 |
Molecular Genetics
In a textbook example of how to make use of clinical information to identify a comparative candidate gene (based on the homologous human disorder) namely KRT5 (keratin 5), Ford et al. (2005) showed that this disorder in the offspring of a Friesian-Jersey bull is due to a 4051G>A base substitution in the bovine KRT5 gene, leading to an E478K amino-acid substitution. The bull turned out to be mosaic for a de novo mutation. Jacinto et al. (2020): "Whole‐genome sequencing [of a "6‐day‐old Belgian Blue‐Holstein calf . . . [with] a syndrome resembling epidermolysis bullosa simplex"] revealed a heterozygous disruptive in‐frame deletion variant in KRT5 (c.534_536delCAA). Genotyping of both parents confirmed the variant as de novo mutation."