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A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report

Teshima, Takahiro, Kurita, Sena, Sasaki, Takashi, Matsumoto, Hirotaka, Niina, Ayaka, Abe, Daijiro, Kanno, Nobuo, Koyama, Hidekazu
BMC veterinary research 2019 v.15 no.1 pp. 62
DNA, amino acid sequences, amino acids, blood serum, bones, calcitriol, calcium, case studies, diet, exons, females, frameshift mutation, genetic variation, humans, ionization, kittens, laboratory experimentation, metabolism, pain, radiography, rickets, seizures, stop codon, vitamin D deficiency
BACKGROUND: Vitamin D-dependent rickets is rare in animals and humans. Several types of this condition are associated with genetic variants related to vitamin D metabolism. This is the first report of type 1B vitamin D-dependent rickets in a cat. CASE PRESENTATION: Here, we describe the case of a 3-month-old female domestic short-haired cat previously fed on commercial kitten food that presented at our clinic with seizures, lethargy, and generalized pain. Serum and ionized calcium concentrations and 1,25-dihydroxycholecalciferol in this cat were low, and radiographs showed skeletal demineralization and abnormally wide growth plates on the long bones. Initially, simple vitamin D deficiency was suspected; however, the cat’s profile, which included fed a well-balanced commercial diet, together with the findings of additional laboratory tests and the cat’s unresponsiveness to various treatments, raised the suspicion of vitamin D-dependent rickets. Examination of the DNA sequences of CYP2R1 and CYP27B1 genes, which are genes linked with vitamin D metabolism, showed a CYP2R1 frameshift mutation in exon 5 (where T is deleted at position c.1386). This mutation alters the amino acid sequence from position 462, while the stop codon introduced at position 481 prematurely truncates the 501 amino acid full-length protein. With this knowledge, a new treatment regime based on a standard dose of calcitriol was started and this markedly improved the cat’s condition. CONCLUSIONS: To the best of our knowledge, the present case is the first description of type 1B vitamin D-dependent rickets linked with a genetic variant of CYP2R1 in a cat.