CTSK variant implicated in suspected pyknodysostosis in a domestic cat.
Maria LyrakiAngie HibbertSorrel J Langley-HobbsPhilippa LaitReuben M BuckleyWesley C WarrenLeslie A Lyonsnull nullPublished in: JFMS open reports (2022)
This is the first report of a cat with a similar clinical presentation and genetic variant to the hereditary human genetic disorder pyknodysostosis. In this case, WES was performed, which often facilitates the diagnosis of various hereditary disorders (ie, a conceptual framework for practicing feline genomic medicine). Despite the severe skeletal and appendicular abnormalities described, the cat was alive more than 2 years after its initial presentation.