Peer-reviewed veterinary case report
Kitten with vitamin D receptor gene defect causing rickets and jaw
By Suzuki, Sora et al.·Published in The Journal of veterinary medical science·2025·Faculty of Veterinary Medicine, Japan·View original on PubMed →
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Original publication title: Feline vitamin D-dependent rickets type 2 caused by a missense variant in the vitamin D receptor gene.
- Species:
- cat
Plain-English summary
An 11-month-old female kitten was brought to the vet because she was limping and couldn't close her mouth. Tests showed she had low calcium levels and issues with her jaw joints. Despite being fed a complete diet, it turned out she had a genetic problem affecting her vitamin D receptors, which are crucial for calcium absorption. This condition is known as vitamin D-dependent rickets type 2. The kitten's treatment would likely focus on managing her calcium levels and addressing the underlying genetic issue.
People also search for: kitten limping · cat mouth problems · vitamin D deficiency in cats · kitten calcium treatment · cat jaw joint issues
Abstract
An 11-month-old female kitten was evaluated for lameness and an inability to close her mouth. The kitten had marked hypocalcemia with elevated intact parathyroid hormone and 1,25(OH)Dlevels. Radiographic imaging indicated generalized osteopenia and dysplasia of temporomandibular joints. Since a nutritionally complete diet was being fed, dysfunction of vitamin D receptors (VDR) was suspected. Genetic tests revealed three variants (c.439A >G, c.509C >T, and c.529_530insGCA) in the VDR gene, and c.509C >T, replacing proline 170 with leucine (p.Pro170Leu), was predicted to be damaging by in silico analysis. VDR-deficient feline kidney epithelial cells were transfected with wild-type or p.Pro170Leu VDR expression vectors, revealing impaired responsiveness to 1,25(OH)Din mutants. Based on these findings, the cat was diagnosed with vitamin D-dependent rickets type 2.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41083377/