OMIA:002281-9685 : Epidermolysis bullosa, simplex, KRT14-related in Felis catus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131760 (trait) , 131900 (trait) , 131800 (trait) , 601001 (trait) , 148066 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
History: Dettwiler et al. (2020): "To our knowledge, this is the first report of a spontaneously arising loss of function allele in the KRT14 gene in a domestic animal with EBS, and the first report of feline EBS."
Molecular basis: Dettwiler et al. (2020) reported "a homozygous nonsense variant in the KRT14 gene (c.979C>T, p.Gln327*)" as the likely causal variant in an affected male domestic shorthair cat.
Clinical features: Dettwiler et al. (2020): "At presentation, the cat was lethargic and inappetent. Partial to complete sloughing of the paw pad skin affecting multiple pads with multifocal re‐epithelization underneath was present . . . . The gums, hard palate, buccal mucosa and ventral aspect of the tongue were multifocally ulcerated . . . . Lesions were not contiguous with teeth, which appeared normal. Ulcers were also present at the inner aspect of both pinnae . . . . The cat tested negative for FIV, FeLV, toxoplasma and Coronavirus."
Pathology: Dettwiler et al. (2020): "Biopsy specimens from paw pads and tongue were submitted for histopathological examination. Both tissues displayed a multifocal detachment of the epithelium, without associated interface inflammation . . . . These blisters were roofed by the epithelial basal layer showing an uneven contour . . . . The basement membrane covering the dermis and lamina propria, respectively, was the blister floor, as confirmed by PAS reaction . . . . In areas with adherent epithelium, multifocal cytoplasmic vacuolation of basal keratinocytes was seen . . . . The paw pad tissue was covered with one to two layers of necrotic detached epidermis alternating with serocellular crusts . . . . Paw pad dermis and mucosal connective tissue displayed a mild to moderate mixed inflammation."
Prevalence: Dettwiler et al. (2020): "Sanger sequencing confirmed the mutant allele to be present in a homozygous state in the affected cat and absent from 154 unaffected cats from different breeds."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT14||keratin 14, type I||Felis catus||E1||NC_058381.1 (40388843..40384168)||KRT14||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|
|1229||Domestic Shorthair||Epidermolysis bullosa, simplex, KRT14-related||KRT14||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||E1||g.42361726G>A||c.979C>T||p.(Q327*)||XM_003996860.5; XP_003996909.2||2020||32657488||Genomic position in Felis_catus_9.0 provided by Joshua Khamis.|
|2020||Dettwiler, M., Leuthard, F., Bauer, A., Jagannathan, V., Lourenço-Martins, A.M., Pereira, H., Leeb, T., Welle, M.M., Dettwiler, M., Leuthard, F., Bauer, A., Jagannathan, V., Lourenço-Martins, A.M., Pereira, H., Leeb, T., Welle, M.M. :|
|A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex. Anim Genet :, 2020. Pubmed reference: 32657488 . DOI: 10.1111/age.12979.|
- Created by Frank Nicholas on 16 Jul 2020
- Changed by Frank Nicholas on 16 Jul 2020