OMIA:002081-9913 : Epidermolysis bullosa, simplex, KRT5-related in Bos taurus
In other species: dog
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131760 (trait) , 131900 (trait) , 601001 (trait) , 131800 (trait) , 131960 (trait) , 609352 (trait) , 148040 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2005
Molecular basis: 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."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT5||keratin 5, type II||Bos taurus||5||NC_037332.1 (27367078..27372929)||KRT5||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1265||Epidermolysis bullosa, simplex, KRT5-related`||KRT5||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||5||g.27367604_27367606del||c.534_536del||p.(N178del)||"27367604delCAA (NM_001008663.1:c.534_536delCAA), leading to a loss of an asparagine amino acid at residue 178 of the encoded KRT5 protein (NP_001008663.1:p.Asn178del)" (Jacinto et al., 2020).||2020||33135329||In an email dated 5 November 2020, Cord Drögemüller confirmed that the genomic specification for this variant is g.27367604_27367606delCAA|
|192||Friesian cross (Cattle) Jersey cross||Epidermolysis bullosa||KRT5||missense||Naturally occurring variant||ARS-UCD1.2||5||g.27371128G>A||c.1432G>A||p.(E478K)||2005||15955091||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Drögemüller, C., Agerholm, J.S. :|
|A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. J Vet Intern Med 34:2800-07, 2020. Pubmed reference: 33135329 . DOI: 10.1111/jvim.15943.|
|2005||Ford, CA., Stanfield, AM., Spelman, RJ., Smits, B., Ankersmidt-Udy, AE., Cottier, K., Holloway, H., Walden, A., Al-Wahb, M., Bohm, E., Snell, RG., Sutherland, GT. :|
|A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire. J Invest Dermatol 124:1170-6, 2005. Pubmed reference: 15955091 . DOI: 10.1111/j.0022-202X.2005.23610.x.|
- Created by Frank Nicholas on 29 Nov 2016
- Changed by Frank Nicholas on 04 Nov 2020
- Changed by Frank Nicholas on 05 Nov 2020