{"title":"Feline vitamin D-dependent rickets type 2 caused by a missense variant in the vitamin D receptor gene.","authors":"Sora Suzuki, Hitomi Masuyama, Jiro Miyamae, Hiroaki Hemmi, Naoaki Matsuki, Kohei Murakami","doi":"10.1292/jvms.25-0307","DOIUrl":null,"url":null,"abstract":"<p><p>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)<sub>2</sub>D<sub>3</sub> levels. 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)<sub>2</sub>D<sub>3</sub> in mutants. Based on these findings, the cat was diagnosed with vitamin D-dependent rickets type 2.</p>","PeriodicalId":49959,"journal":{"name":"Journal of Veterinary Medical Science","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Veterinary Medical Science","FirstCategoryId":"97","ListUrlMain":"https://doi.org/10.1292/jvms.25-0307","RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
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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)2D3 levels. 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)2D3 in mutants. Based on these findings, the cat was diagnosed with vitamin D-dependent rickets type 2.
期刊介绍：
JVMS is a peer-reviewed journal and publishes a variety of papers on veterinary science from basic research to applied science and clinical research. JVMS is published monthly and consists of twelve issues per year. Papers are from the areas of anatomy, physiology, pharmacology, toxicology, pathology, immunology, microbiology, virology, parasitology, internal medicine, surgery, clinical pathology, theriogenology, avian disease, public health, ethology, and laboratory animal science. Although JVMS has played a role in publishing the scientific achievements of Japanese researchers and clinicians for many years, it now also accepts papers submitted from all over the world.
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