OMIA:001431-9685 : Vitamin D-deficiency rickets, type II in Felis catus (domestic cat)
In other species: dog
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Vitamin D dependent rickets type 2A (VDDR-2A), also called hereditary vitamin-D resistant rickets (HVDRR), is caused in many species by mutations in the Vitamin D Receptor (VDR) gene.
Molecular basis: Habacher et al. (2023) investigated a domestic longhair kitten with rickets. Whole-exome sequencing identified a "cytosine deletion at cat chromosome position B4:76777621 in VDR (ENSFCAT00000029466:c.106delC)". The variant was "predicted to cause a stop codon in exon 2 (p.Arg36Glufs*18), disrupting >90% of the receptor. The variant was unique and homozygous in this patient and absent in the sibling and approximately 400 other cats ... ."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Habacher et al. (2023) investigated a "14-week-old female domestic longhair kitten presented for shifting lameness and reluctance to jump. The kitten was substantially smaller (approximately 50% the size) than its male littermate. ... The afflicted kitten had marked hypocalcemia, mild hypophosphatemia and substantial elevations in alkaline phosphatase activity, as well as pathognomonic radiographic findings consistent with rickets. ... Endocrine testing demonstrated significant increases in serum concentrations of PTH and 1,25-dihydroxycholecalciferol (calcitriol), supporting a diagnosis of vitamin D-dependent rickets type 2."
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|VDR||vitamin D (1,25- dihydroxyvitamin D3) receptor||Felis catus||B4||NC_058374.1 (74708938..74651984)||VDR||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.
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|
|1586||Domestic Longhair||Vitamin D-dependent rickets type 2||VDR||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B4||g.76777621del||c.106del||p.(R36Efs*18)||ENSFCAT00000029466; published as c.106delC||2023||37387221|
Cite this entry
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.
|2023||Habacher, G., Malik, R., Lait, P.J., Coghill, L.M., Middleton, R.P., Warren, W.C., Lyons, L.A. :|
|Feline precision medicine using whole-exome sequencing identifies a novel frameshift mutation for vitamin D-dependent rickets type 2. J Feline Med Surg 25:1098612X231165630, 2023. Pubmed reference: 37387221. DOI: 10.1177/1098612X231165630.|
|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.|
|2005||Godfrey, DR., Anderson, RM., Barber, PJ., Hewison, M. :|
|Vitamin D-dependent rickets type II in a cat. J Small Anim Pract 46:440-4, 2005. Pubmed reference: 16167595.|
|Tanner, E., Langley-Hobbs, SJ. :|
|Vitamin D-dependent rickets type 2 with characteristic radiographic changes in a 4-month-old kitten. J Feline Med Surg 7:307-11, 2005. Pubmed reference: 16182185. DOI: 10.1016/j.jfms.2005.01.003.|
|2003||Schreiner, CA., Nagode, LA. :|
|Vitamin D-dependent rickets type 2 in a four-month-old cat. J Am Vet Med Assoc 222:337-9, 315-6, 2003. Pubmed reference: 12564596.|
|1999||Henik, RA., Forrest, LJ., Friedman, AL. :|
|Rickets caused by excessive renal phosphate loss and apparent abnormal vitamin D metabolism in a cat. J Am Vet Med Assoc 215:1644-9, 1620-1, 1999. Pubmed reference: 14567428.|
- Created by Frank Nicholas on 18 Jul 2006
- Changed by Imke Tammen2 on 01 Jul 2023