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| Basic information |
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| Name |
Miyamae Jiro |
| Belonging department |
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| Occupation name |
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| researchmap researcher code |
B000354847 |
| researchmap agency |
Okayama University of Science |
Feline vitamin D-dependent rickets type 2 Äb0caused by a missense variant in the vitamin Äb0D receptor gene
Sora SUZUKI1)#, Hitomi MASUYAMA1)#, Jiro MIYAMAE1), Hiroaki HEMMI1), Naoaki MATSUKI2), Kohei MURAKAMI1)*
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)Äsl181Äslmult0 2DÄsl181Äslmult0 3 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 Äi0gene, and c.509C >T, replacing proline 170 with leucine (p.Pro170Leu), was predicted to be damaging by in silico Äi0analysis. VDR-deficient feline kidney epithelial cells were transfected with wild-type or p.Pro170Leu VDR expression vectors, revealing impaired responsiveness to 1,25(OH)Äsl181Äslmult0 2DÄsl181Äslmult0 3 in mutants. Based on these findings, the cat was diagnosed with vitamin D-dependent rickets type 2.
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