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

Summary 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...

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Bibliographic Details
Published in:Animal genetics 2020-10, Vol.51 (5), p.829-832
Main Authors: Dettwiler, M., Leuthard, F., Bauer, A., Jagannathan, V., Lourenço, A. M., Pereira, H., Leeb, T., Welle, M. M.
Format: Article
Language:English
Subjects:
Animals
Biopsy
Blistering
Case reports
Cat Diseases - genetics
Cat Diseases - pathology
Cats
Codon, Nonsense
dermatology
Domestic animals
Epidermis
Epidermolysis bullosa
Epidermolysis Bullosa Simplex - genetics
Epidermolysis Bullosa Simplex - pathology
Epidermolysis Bullosa Simplex - veterinary
Epithelium
Felis catus
Genetic diversity
Genetic variance
genodermatosis
Genotypes
Heredity
Immunohistochemistry
Keratin
Keratin-14 - genetics
Keratin-14 - metabolism
Male
Oral cavity
precision medicine
skin
Skin diseases
whole genome sequencing
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Summary:Summary 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.
ISSN:0268-9146
1365-2052
DOI:10.1111/age.12979