OMIA 002221-9685 : Vitamin D-deficiency rickets, type Ib in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600081

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

History: Teshima et al. (2019): "This is the first report of type 1B vitamin D-dependent rickets in a cat."

Molecular basis: Noting that the clinical signs (see Clinical features section) of a single domestic shorthair cat were similar to those of vitamin D-dependent rickets, Teshima et al. (2019) sequenced the comparative candidate genes in this affected cat and discovered "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."

Clinical features: Teshima et al. (2019) "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."

Breed: Domestic Shorthair.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC101093889 vitamin D 25-hydroxylase Felis catus D1 NC_018732.3 (72995954..72974666) LOC101093889 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Domestic Shorthair Vitamin D-deficiency rickets, type Ib LOC101093889 deletion, small (<=20) c.1386del (p.Phe462Leufs*20) 2019 30777056

Reference


2019 Teshima, T., Kurita, S., Sasaki, T., Matsumoto, H., Niina, A., Abe, D., Kanno, N., Koyama, H. :
A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report. BMC Vet Res 15:62, 2019. Pubmed reference: 30777056. DOI: 10.1186/s12917-019-1784-1.

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  • Created by Frank Nicholas on 10 Dec 2019