Scottish Fold osteochondrodysplasia (SFOCD)

Scottish Fold cats, named for their unique forward-folded ears, have dominantly inherited osteochondrodysplasia. However, in addition to the folding of the ears, this causes musculoskeletal defects such as malformations of the limbs and tail tips or progressive destruction of the joints.

The causative mutation specific to the Scottish Fold Cat breed, including its long-haired variant, is the missense mutation c.1024G>T in the TRPV4 gene.

Inheritance of this mutation is incompletely autosomal dominant. This means that one copy of the mutated gene inherited from one of the parents is sufficient to cause the trait. However, an affected homozygote who has inherited the mutation from both parents will differ from a heterozygote in the strength of the traits and the severity of the manifestations, e.g. the rate of onset of osteoarthritis.

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

References:

Gandolfi, B., Alamri, S., Darby, W.G., Adhikari, B., Lattimer, J.C., Malik, R., Wade, C.M., Lyons, L.A., Cheng, J., Bateman, J.F., McIntyre, P., Lamandé, S.R., Haase, B. : A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. Osteoarthritis Cartilage 24:1441-50, 2016. Pubmed reference: 27063440