OMIA 002081-9913 : Epidermolysis bullosa, simplex, KRT5-related in Bos taurus
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."Associated gene:
|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|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Belgian Blue‐Holstein cross||Epidermolysis bullosa, simplex, KRT5-related`||KRT5||deletion, small (<=20)||ARS-UCD1.2||5||g.27367604_27367606delCAA||c.534_536delCAA||p.Asn178del||"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|
|Friesian-Jersey mosaic||Epidermolysis bullosa||KRT5||missense||UMD3.1||5||g.27545478G>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 :, 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