OMIA 001431-9615 : Vitamin D-deficiency rickets, type II in Canis lupus familiaris

In other species: domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 277440

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Species-specific symbol: HVDRR

Species-specific description: Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Molecular basis: LeVine et al. (2009) reported "A unique single base deletion (guanine) was identified at the exon 4-intron junction . . . in the affected dog's genomic DNA"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor Canis lupus familiaris 27 NC_006609.3 (6852915..6909466) VDR 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
Pomeranian Vitamin D-deficiency rickets, type II VDR splicing "A unique single base deletion (guanine) was identified at the exon 4-intron junction" 2009 19909429

Reference


2009 LeVine, DN., Zhou, Y., Ghiloni, RJ., Fields, EL., Birkenheuer, AJ., Gookin, JL., Roberston, ID., Malloy, PJ., Feldman, D. :
Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene. J Vet Intern Med 23:1278-83, 2009. Pubmed reference: 19909429. DOI: 10.1111/j.1939-1676.2009.0405.x.

Edit History


  • Created by Frank Nicholas on 04 Apr 2010
  • Changed by Frank Nicholas on 29 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 11 Jul 2017