Hereditary Vitamin D-Resistant Rickets Type II

Gene: VDR

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, VDR gene; c.462del, p.(P155L fs STOP 40)

Medical system: Skeletal

Breeds: Pomeranian

References:

OMIA link: [1431-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Clarke KE, Hurst EA, Mellanby RJ. (2021) Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract 62:935-947. [pubmed/34323302]

LeVine DN, Zhou Y, Ghiloni RJ, et al. (2009) 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. [pubmed/19909429]