Breeds Affected: Coton de Tuléar
Samples Accepted: Blood, Buccal Swabs
Disease Information: Primary Hyperoxaluria (PH) is a disease in which oxalate crystals form in the kidney, resulting in sudden illness leading to death in 3-4 week old pups.
Inheritance Information: PH is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/ph The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/ph carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
ph/ph The dog is affected, and will not live long enough to reproduce.
– Carriers may be bred to normal animals (N/ph x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/ph x N/ph) is not recommended due to the possibility of 25% of the offspring being affected.
Test Information: This mutation test identifies a single base pair change in the AGXT gene.
Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H.: Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111/j.1365-2052.2011.02260.x.
Further information is available at the Online Mendelian Inheritance in Animals website