PCYT2 deficiency in Saarloos Wolfhond

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Christen, M., Oevermann, A., Rupp, S., Vaz, F.M., Wever, E.J.M., Braus, B.K., Jagannathan, V., Kehl, A., Hytönen, M.K., Lohi, H., Leeb, T. : PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration. Mol Genet Metab 141:S1096-7192(24)00034-9:108149, 2024. Pubmed reference: 38277988