A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex.
Felis catus
dermatology
genodermatosis
keratin
precision medicine
skin
whole genome sequencing
Journal
Animal genetics
ISSN: 1365-2052
Titre abrégé: Anim Genet
Pays: England
ID NLM: 8605704
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
accepted:
15
06
2020
pubmed:
14
7
2020
medline:
19
12
2020
entrez:
14
7
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Codon, Nonsense
0
Keratin-14
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
829-832Subventions
Organisme : Swiss National Science Foundation
ID : CRSII3_160738
Pays : Switzerland
Informations de copyright
© 2020 Stichting International Foundation for Animal Genetics.
Références
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