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Feline Cystinuria I-A
| Acronym: | CYS |
| Gene: | SLC3A1 |
| Mutation: | c.1342C>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Feline Cystinuria is a genetic metabolic disorder characterized by excessive amounts of undissolved cystine in the urine, as well as three amino acids: arginine, lysine, and ornithine, collectively known as COLA. Cystinuria has been detected in numerous animals including cats and it has been classified into several types depending on the age of onset, severity, sex, inheritance, and mutant gene. Type I-A is the most common type found in cats and it is associated with a variant in the SLC3A1 gene. SLC3A1 encodes a globular protein that plays an important role in the amino acid transporter system and its defect may lead to the formation of cystine crystals which can result in urinary obstruction and renal failure in affected cats.
This inborn error of metabolism in cats is inherited as an autosomal recessive trait meaning both mutated SLC3A1 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:
Mizukami, K., Raj, K., Giger, U. (2015). Feline cystinuria caused by a missense mutation in the SLC3A1 gene. Journal of veterinary internal medicine, 29(1), 120–125. https://doi.org/10.1111/jvim.12501
Kovaříková, S., Maršálek, P., Vrbová, K. (2021). Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?. Animals : an open access journal from MDPI, 11(8), 2437. https://doi.org/10.3390/ani11082437