{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T21:43:44Z","timestamp":1769550224233,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T00:00:00Z","timestamp":1594598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["CRSII3_160738"],"award-info":[{"award-number":["CRSII3_160738"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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 <jats:italic>KRT5<\/jats:italic> or <jats:italic>KRT14<\/jats:italic> genes. Here, we report a case of feline epidermolysis bullosa simplex and describe the causative genetic variant. An 11\u2010month\u2010old 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 <jats:italic>KRT14<\/jats:italic> gene (c.979C&gt;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 <jats:italic>KRT14<\/jats:italic> variant in a non\u2010human species. The homozygous genotype in the affected cat suggests an autosomal recessive mode of inheritance.<\/jats:p>","DOI":"10.1111\/age.12979","type":"journal-article","created":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T10:45:40Z","timestamp":1594637140000},"page":"829-832","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A nonsense variant in the <i>KRT14<\/i> gene in a domestic shorthair cat with epidermolysis bullosa simplex"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-7122","authenticated-orcid":false,"given":"M.","family":"Dettwiler","sequence":"first","affiliation":[{"name":"Institute of Animal Pathology Vetsuisse Faculty University of Bern L\u00e4nggassstrasse 122 Bern 3001 Switzerland"},{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Leuthard","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bremgartenstrasse 109a Bern 3001 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6765-4012","authenticated-orcid":false,"given":"A.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bremgartenstrasse 109a Bern 3001 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"V.","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bremgartenstrasse 109a Bern 3001 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4747-2086","authenticated-orcid":false,"given":"A. M.","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Dermatology Service Faculty of Veterinary Medicine Centre for Interdisciplinary Research in Animal Health University of Lisbon Av. Universidade T\u00e9cnica Lisboa 1300\u2010477 Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Pereira","sequence":"additional","affiliation":[{"name":"Dermatology Service Faculty of Veterinary Medicine Centre for Interdisciplinary Research in Animal Health University of Lisbon Av. Universidade T\u00e9cnica Lisboa 1300\u2010477 Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"T.","family":"Leeb","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bremgartenstrasse 109a Bern 3001 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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