Deutsch
Hrvatski
Русский
Português
Feline Congenital Erithropoietic Porphyria (CEP)
| Acronym: | CEP |
| Gene: | UROS |
| Mutation: | c. 331G>A, c.140C>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Congenital Erythropoietic Porphyria (CEP) is a group of genetic inborn errors of metabolism resulting from deficient activities of specific enzymes in the heme biosynthetic pathway. Heme is a precursor to hemoglobin and other similar proteins containing iron, which are necessary to bind oxygen in the bloodstream and are usually synthesized in the bone marrow and the liver. The type of CEP found in Domestic Short Hair cats is a consequence of a mutation in the UROS gene that encodes an enzyme uroporphyrinogen III synthase required for the production of heme. Its deficiency and impaired function cause porphyrin accumulation in teeth, bones, and other tissues in cats, and hence clinical signs include dark-red urine and erythrodontia (tooth discoloration) with pink/red fluorescence under ultraviolet light.
This type of porphyria found in cats is inherited as an autosomal recessive trait requiring both mutated UROS genes for the disease to develop. Cats that carry only one mutated gene may act as carriers and potentially pass the mutation to their offspring. Early detection by genetic testing can help identify cats that are affected or carry the specific mutation and help breeders in selecting future 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:
Clavero, S., Bishop, D. F., Giger, U., Haskins, M. E., Desnick, R. J. (2010). Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Molecular medicine (Cambridge, Mass.), 16(9-10), 381–388. https://doi.org/10.2119/molmed.2010.00038
Giddens, W. E., Jr, Labbe, R. F., Swango, L. J., Padgett, G. A. (1975). Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic, and biochemical studies. The American journal of pathology, 80(3), 367–386.