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Primary Hyperoxaluria Type 2
| Acronym: | PHX2 |
| Gene: | GRHPR |
| Mutation: | g.60968927G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Primary hyperoxaluria (PH) is a genetic disease characterized by the widespread deposition of calcium oxalate crystals. PH has been previously described in cats in two different forms depending on what mutation and within what gene it has occurred. Both types show similar clinical signs and they include progressive weight loss, deposition of calcium oxalate crystals in the kidneys, bones, arterial media, and myocardium, followed by increased concentrations of oxalate in body fluids, including the urine. Deposition of calcium oxalate crystals most frequently occurs in the kidneys, resulting in renal failure which can lead to death in severe cases. Type 2 of primary hyperoxaluria found in cats is associated with a mutation in the glyoxylate reductase (GRHPR) gene. GRHPR encodes an enzyme crucial for preventing the buildup of a potentially harmful substance and converting them to substances that can be easily excreted from the body.
This type of primary hyperoxaluria in cats is inherited as an autosomal recessive trait meaning both mutated GRHPR genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early genetic testing can help identify cats 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:
Goldstein R. E., Narala S., Sabet N., Goldstein O., McDonough S. P. (2009). Primary Hyperoxaluria in Cats Is Caused by a Mutation in the Feline GRHPR Gene, Journal of Heredity, 100(1), S2–S7. https://doi.org/10.1093/jhered/esp038
Suzuki, T., Uetsuka, K., Doi, K., Nunoya, T. (2012). A case of renal oxalosis in a 3-month-old cat raised under controlled conditions. The Journal of veterinary medical science, 74(3), 381–384. https://doi.org/10.1292/jvms.11-0399
McKerrell, R. E., Blakemore, W. F., Heath, M. F., Plumb, J., Bennett, M. J., Pollitt, R. J., Danpure, C. J. (1989). Primary hyperoxaluria (L-glyceric aciduria) in the cat: a newly recognised inherited disease. The Veterinary record, 125(2), 31–34. https://doi.org/10.1136/vr.125.2.31