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OMIA:002221-9685 : Vitamin D-deficiency rickets, type IB in Felis catus (domestic cat)

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600081 (trait) , 608713 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Cross-species summary: Vitamin D dependent rickets type 1B is caused by mutations in the CYP2R1 gene leading to failure of vitamin D to be converted to 25(OH)D.

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYP2R1 cytochrome P450 family 2 subfamily R member 1 Felis catus D1 NC_058377.1 (71198736..71030684) CYP2R1 Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1137 Domestic Shorthair Vitamin D-deficiency rickets, type Ib CYP2R1 deletion, small (<=20) Naturally occurring variant Felis_catus_9.0 D1 g.72977336del c.1386del p.(F462Lfs*20) XM_003993015.5; XP_003993064.1; genomic position in accordance with HGVS 3'-rule 2019 30777056 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002221-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2021 Clarke, K.E., Hurst, E.A., Mellanby, R.J. :
Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract 62:935-947, 2021. Pubmed reference: 34323302. DOI: 10.1111/jsap.13401.
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.

Edit History


  • Created by Frank Nicholas on 10 Dec 2019
  • Changed by Imke Tammen2 on 16 Jun 2021
  • Changed by Imke Tammen2 on 26 Feb 2022