Xanthinuria, type II

Gene: MOCOS

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.

Mutations:

Cavalier King Charles Spaniel mutation: Deletion, MOCOS gene; c.383 del., p.(A128G fs STOP 30)

Manchester Spaniel mutation: Substitution, MOCOS gene; p.(232 G>T, p.G48_Y77, splicing error, deletion exon2)

Dachshund mutation: Substitution, MOCOS gene; c.137 T>C, p.(L46P)

Medical system: Renal

Breeds: American Cocker Spaniel, Cavalier King Charles Spaniel, Dachshund Standard Longhair/Shorthair, English Cocker Spaniel, Manchester Terrier

References:

OMIA link: [1819-9615]

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]

Tate NM, Minor KM, Lulich JP, et al. (2021) Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. Mol Genet Metab Rep 29:100792. [pubmed/34584846]

Furrow E, Tate N, Minor K, et al. (2016) 2016 ACVIM Forum Research Report Program: Three diverse mutations underlying canine xanthine urolithiasis. J Vet Intern Med 30:1537.  [https://onlinelibrary.wiley.com/doi/10.1111/jvim.13963]