OMIA 001283-9615 : Xanthinuria, generic in Canis lupus familiaris

In other species: giant otter , domestic cat , cattle , goat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Molecular basis: Furrow et al. (2016) reported in a conference abstract the identification of three likely disease-causing mutations for xanthine urolithiasis. Affected Cavalier King Charles Spaniels had a mutation resulting in a premature stop codon in the molybdenum cofactor sulfurase gene (MOCOS), affected Toy Manchester Terriers had a splice site mutation in MOCOS, and an affected mixed breed dog had a splice site mutation in the xanthine dehydrogenase (XDH) gene. The authors developed mutation-specific assays and reported results in the abstract that suggest that the mutations segregate with disease. Further details about the mutations were not provided in the abstract.

References


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.
2016 Furrow, E., Tate, N., Minor, K., Mickelson, J., Peterson, K., Lulich, J. :
2016 ACVIM Forum Research Report Program: Three diverse mutations underlying canine xanthine urolithiasis. J Vet Intern Med 30:1537, 2016. DOI: 10.1111/jvim.13963.
2013 Jacinto, A.M., Mellanby, R.J., Chandler, M., Bommer, N.X., Carruthers, H., Fairbanks, L.D., Gow, A.G. :
Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. J Small Anim Pract 54:395-8, 2013. Pubmed reference: 23859747. DOI: 10.1111/jsap.12106.
1998 Flegel, T., Freistadt, R., Haider, W. :
Xanthine urolithiasis in a dachshund Veterinary Record 143:420-423, 1998. Pubmed reference: 9807792.
1997 Kucera, J., Bulkova, T., Rychla, R., Jahn, P. :
Bilateral xanthine nephrolithiasis in a dog Journal of Small Animal Practice 38:302-305, 1997. Pubmed reference: 9239633.
Vanzuilen, C.D., Nickel, R.F., Vandijk, T.H., Reijngoud, D.J. :
Xanthinuria in a family of Cavalier King Charles spaniels Veterinary Quarterly 19:172-174, 1997. Pubmed reference: 9413115.
1996 Vanzuilen, C.D., Nickel, R.F., Reijngoud, D.J. :
Xanthinuria (xanthine oxidase deficiency) in two Cavalier King Charles spaniels Veterinary Quarterly 18:S 24-S 25, 1996.
1969 Delbarre, F., Holtzer, A., Auscher, C. :
[Xanthine urinary lithiasis and xanthinuria in a dachshund. Deficiency, probably genetic, of the xanthine oxidase system]. C R Acad Hebd Seances Acad Sci D 269:1449-52, 1969. Pubmed reference: 4982510.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 05 Aug 2013
  • Changed by Imke Tammen2 on 02 Nov 2020