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Congenital Erythropoietic Porphyria, Variant 1 (Feline)

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Test Overview:

Genetic testing is essential to identify carriers and affected cats. Avoid breeding two carriers to prevent producing affected kittens. Carrier cats are asymptomatic but can pass the mutation to offspring. Breed carriers only to genetically clear cats to prevent disease. Monitor breeding lines to reduce the frequency of mutated alleles over time. Genetic counselling should be provided to breeders to maintain genetic diversity while minimising disease risk.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

UROS

Variant Detected:

c.[140C>T;331G>A]

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Congenital Erythropoietic Porphyria.

Research Citation(s):

Clavero, S., Bishop, DF., Giger, U., Haskins, ME., Desnick, RJ. : Feline congenital erythropoietic porphyria: Two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med 16:381-388, 2010. Pubmed reference: 20485863

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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