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