Peer-reviewed veterinary case report
Cat family with fragile skin due to ADAMTS2 gene mutation
By Simon, Rebecca et al.·Published in G3 (Bethesda, Md.)·2023·Institute of Animal Breeding and Genetics, Germany·View original on PubMed →
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Original publication title: Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.
- Species:
- cat
Plain-English summary
Four kittens from the same father but different mothers were found to have serious skin problems that made their skin very fragile and prone to tearing. These European domestic shorthair kittens had wounds that wouldn't heal and showed signs of a connective tissue disorder called Ehlers-Danlos syndrome. Genetic testing revealed a specific mutation in a gene called ADAMTS2 that is linked to this condition. Unfortunately, all four kittens were affected by this genetic issue, which is known to cause similar problems in other animals and humans. The findings suggest that this mutation is likely the cause of their skin issues.
People also search for: cat skin problems · Ehlers-Danlos syndrome in kittens · kitten skin tearing treatment
Abstract
We investigated 4 European domestic shorthair kittens with skin lesions consistent with the dermatosparaxis type of the Ehlers-Danlos syndrome, a connective tissue disorder. The kittens were sired by the same tomcat but were born by 3 different mothers. The kittens had easily torn skin resulting in nonhealing skin wounds. Both clinically and histologically, the skin showed thin epidermis in addition to inflammatory changes. Changes in collagen fibers were visible in electron micrographs. The complete genome of an affected kitten was sequenced. A one base pair duplication leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). All 4 affected cats carried the frameshift duplication in a homozygous state. Genotypes at this variant showed perfect cosegregation with the autosomal recessive Ehlers-Danlos syndrome phenotype in the available family. The mutant allele did not occur in 48 unrelated control cats. ADAMTS2 loss-of-function variants cause autosomal recessive forms of Ehlers-Danlos syndrome in humans, mice, dogs, cattle, and sheep. The available evidence from our investigation together with the functional knowledge on ADAMTS2 in other species allows to classify the identified ADAMTS2 variant as pathogenic and most likely causative variant for the observed Ehlers-Danlos syndrome.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37462293/