A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex.

Dettwiler, M.; Leuthard, F.; Bauer, A.; Jagannathan, V.; Lourenço, A. M.; Pereira, H.; Leeb, T.; Welle, M. M. (2020). A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex. Animal genetics, 51(5), pp. 829-832. Wiley 10.1111/age.12979

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Epidermolysis bullosa simplex (EBS) is a hereditary blistering disease affecting the skin and mucous membranes. It has been reported in humans, cattle, buffaloes and dogs, but so far not in cats. In humans, EBS is most frequently caused by variants in the KRT5 or KRT14 genes. Here, we report a case of feline epidermolysis bullosa simplex and describe the causative genetic variant. An 11-month-old male domestic shorthair cat presented with a history of sloughed paw pads and ulcerations in the oral cavity and inner aspect of the pinnae, starting a few weeks after birth. Clinical and histopathological findings suggested a congenital blistering disease with a split formation within the basal cell layer of the epidermis and oral mucous epithelium. The genetic investigation revealed a homozygous nonsense variant in the KRT14 gene (c.979C>T, p.Gln327*). Immunohistochemistry showed a complete absence of keratin 14 staining in all epithelia present in the biopsy. To the best of our knowledge, this is the first report of feline EBS, and the first report of a spontaneous pathogenic KRT14 variant in a non-human species. The homozygous genotype in the affected cat suggests an autosomal recessive mode of inheritance.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Dettwiler, Martina Andrea; Leuthard, Fabienne Nadja; Bauer, Anina; Jagannathan, Vidya; Leeb, Tosso and Welle, Monika Maria

Subjects:

600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

1365-2052

Publisher:

Wiley

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

27 Jul 2020 16:52

Last Modified:

13 Sep 2020 01:32

Publisher DOI:

10.1111/age.12979

PubMed ID:

32657488

Uncontrolled Keywords:

Felis catus dermatology genodermatosis keratin precision medicine skin whole genome sequencing

BORIS DOI:

10.7892/boris.145407

URI:

https://boris.unibe.ch/id/eprint/145407

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