Feline vitamin D-dependent rickets type 2 caused by a missense variant in the vitamin D receptor gene.

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)

SUBMITTER: Suzuki S 

PROVIDER: S-EPMC12712204 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature