OMIA 002281-9685 : Epidermolysis bullosa, simplex, KRT14-related in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131760 , 131900 , 131800 , 601001

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT14 keratin 14, type I Felis catus E1 NC_018736.3 (42365052..42360357) KRT14 Homologene, Ensembl, NCBI gene

Variants

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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.

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
Domestic Shorthair Epidermolysis bullosa, simplex, KRT14-related KRT14 nonsense (stop-gain) c.979C>T p.(Gln327*) XM_003996860.5:c.979C>T or XP_003996909.2:p.(Gln327*) (Dettwiler et al., 2020) 2020 32657488

Reference


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.

Edit History


  • Created by Frank Nicholas on 16 Jul 2020
  • Changed by Frank Nicholas on 16 Jul 2020