OMIA:002081-9615 : Epidermolysis bullosa, simplex, KRT5-related in Canis lupus familiaris
In other species: cattle
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: 2022
History: Kiener et al. (2022) were the first to report KRT5-related epidermolysis bullosa simplex in dogs.
Molecular basis: Kiener et al. (2022) "obtained whole genome sequencing data from . . . [an] affected puppy and searched for variants in candidate genes known to cause EB. This revealed a heterozygous missense variant, KRT5:p.(E476K), affecting the highly conserved KLLEGE motif of keratin 5. The mutant allele in the affected puppy arose owing to a de novo mutation event as it was absent from both unaffected parents".
Clinical features: Kiener et al. (2022) "examined a Cardigan Welsh Corgi puppy with skin blistering and erosions that were noticed shortly after birth. It was one of a litter of three puppies, in which both other littermates and the parents were healthy. The affected dog was smaller than the littermates. Vesicles and ulcers were extensively present in the oral cavity, lips and paw pads . . . . Gentle pressure on the skin near affected areas would result in sloughing of the adjacent epidermis (positive Nikolsky sign; ...). The puppy was given supplementary nutrition and adopted by a veterinarian at 10 weeks of age. At that time, the lesions in the oral cavity had healed and the dog was able to eat normally. The dog continued to have waxing and waning lesions on the paw pads, ears, axilla and groin. Blisters would arise intermittently, ulcerate and heal with scarring."
Pathology: Kiener et al. (2022): "At 1 year of age, four skin punch biopsies from lesional areas were obtained under general anesthesia. Histopathologic examination revealed intact subepidermal vesicles along with ulcers, granulation tissue and regions of dermal scarring. Small remnants of basal keratinocytes were evident at the margins of the vesicles and scattered basal keratinocytes were apoptotic. The dog was still alive at 17 months of age (at the time of writing this paper)".
Breed: Cardigan Welsh Corgi.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT5||keratin 5, type II||Canis lupus familiaris||27||NC_051831.1 (2565565..2571930)||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|
|1480||Cardigan Welsh Corgi||Epidermolysis bullosa, simplex, KRT5-related||KRT5||missense||Naturally occurring variant||UU_Cfam_GSD_1.0||27||g.44080887C>T||c.1426G>A||p.(E476K)||NM_001346035.1; NP_001332964.1||2022||36004757|
|2022||Kiener, S., Mauldin, E.A., Jagannathan, V., Casal, M.L., Leeb, T. :|
|KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. Anim Genet 53:892-896, 2022. Pubmed reference: 36004757 . DOI: 10.1111/age.13257.|
- Created by Frank Nicholas on 27 Aug 2022
- Changed by Frank Nicholas on 27 Aug 2022
- Changed by Imke Tammen2 on 08 Sep 2022