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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Takahiro Teshima, Sena Kurita, Takashi Sasaki, Hirotaka Matsumoto, Ayaka Niina, Daijiro Abe, Nobuo Kanno, Hidekazu Koyama

ABSTRACT

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. More... »

PAGES

62

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12917-019-1784-1

DOI

http://dx.doi.org/10.1186/s12917-019-1784-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112221024

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30777056


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