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Xanthinuria, Type I (XANTI)
| Acronym: | XANTI |
| Gene: | XDH |
| Mutation: | c.654G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Xanthinuria type I (XANTI) is a genetic urinary disease in various types of animals, including various breeds of dogs such as Manchester Terriers, English Cocker Spaniel, Dachshund etc. XANTI may be asymptomatic but it is mostly characterized by urinal excretion of large amounts of xanthine, a metabolic by-product of purine metabolism. Large amounts of xanthine in dogs can lead to the formation of urinary stones and secondary renal injury due to its low solubility and precipitation. The type I disease is caused by missense and loss of function variants in the gene sequence of xanthine dehydrogenase (XDH), an enzyme crucial in the degradation pathway of the purine, a building block of nucleic acids.
This type of xanthinuria is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. That means dogs with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Tate NM, Minor KM, Lulich JP, Mickelson JR, Berent A, Foster JD, Petersen KH, Furrow E. (2021) Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. Mol Genet Metab Rep. 29:100792. doi: 10.1016/j.ymgmr.2021.100792. PMID: 34584846; PMCID: PMC8455477.