OMIA 000837-9685 : Vitamin D-deficiency rickets, type I in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYP27B1||cytochrome P450, family 27, subfamily B, polypeptide 1||Felis catus||B4||NC_018729.3 (86183305..86177593)||CYP27B1||Homologene, Ensembl, NCBI gene|
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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|
|Vitamin D-deficiency rickets, type I||CYP27B1||deletion, small (<=20)||B4||c.731delG||2009||19138382|
|Vitamin D-deficiency rickets, type I||CYP27B1||nonsense (stop-gain)||Felis_catus_6.2||B4||g.86472505G>T||c.637G>T||p.(E213*)||2012||22553308||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2012||Grahn, R.A., Ellis, M.R., Grahn, J.C., Lyons, L.A. :|
|A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA. J Feline Med Surg 14:587-90, 2012. Pubmed reference: 22553308. DOI: 10.1177/1098612X12446637.|
|2011||MacKenzie, J.M., Crawford, J., Ghantous, S. :|
|Successful therapy of vitamin D-dependant rickets in a kitten. J Am Anim Hosp Assoc 47:290-3, 2011. Pubmed reference: 21673332. DOI: 10.5326/JAAHA-MS-5610.|
|2009||Geisen, V., Weber, K., Hartmann, K. :|
|Vitamin D-dependent hereditary rickets type I in a cat. J Vet Intern Med 23:196-9, 2009. Pubmed reference: 19138382. DOI: 10.1111/j.1939-1676.2008.00220.x.|
- Created by Frank Nicholas on 20 Jul 2011
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 17 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 24 Nov 2012
- Changed by Frank Nicholas on 07 Dec 2012