Feline polycystic kidney disease mutation identified in PKD1

Lyons and colleagues identified the mutation responsible for polycystic kidney disease in cats, a common inherited disorder especially prevalent in Persian and related breeds that causes fluid-filled cysts to progressively destroy the kidneys. They found a mutation in the feline PKD1 gene, homologous to a gene causing the autosomal dominant form of the disease in humans, establishing the cat as a spontaneous animal model. The discovery enabled a genetic test to identify carriers, allowing breeders to screen and eliminate affected lines and reduce the high prevalence in susceptible breeds. The work illustrated the value of feline genetics for both improving breed welfare and modelling human kidney disease, and the PKD test became a standard screening tool in the breeding of Persians and Persian-derived cats worldwide.