Other Names: Scottish Fold Osteochondrodysplasia (SFOCD), Osteodystrophy
Affected Gene: TRPV4
Transmission: Incomplete autosomal dominant
Mutation: Felis_catus_9.0 D3 g.18884219C>A c.1024G>T
OMIA Link: 000319-9685


Breeds Recommended for Testing: Scottish Fold, Highland Fold


Symptoms:
Scottish Fold cats are characterized by their folded ears, caused by a dominant autosomal mutation in the TRPV4 gene. Kittens are born with straight ears, which begin to fold forward around three to four weeks of age.
This mutation can lead to osteochondrodysplasia, which manifests as malformations of the distal forelimbs, distal hindlimbs, and tail.
For breeding, it is recommended to mate folded-ear cats only with straight-ear cats to avoid producing homozygous mutant cats, which may experience more severe skeletal issues.
The age of onset, severity, and progression of osteochondrodysplasia vary significantly among heterozygous affected cats. It remains unclear whether additional genetic or environmental factors contribute to these phenotypic differences.


References:
Rorden, C., Griswold, M.C., Moses, N., et al. (2021). Radiographical survey of osteochondrodysplasia in Scottish Fold cats caused by the TRPV4 gene variant. Hum Genet 140(11):1525-1534. PubMed: 34406467
Takanosu, M., Hattori, Y. (2020). Osteochondrodysplasia in Scottish Fold cross-breed cats. J Vet Med Sci. 82(12):1769-1772. PubMed: 33162427
Gandolfi, B., Alamri, S., Darby, W.G., et al. (2016). A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish Fold cats. Osteoarthritis and Cartilage 24:1441-1450. PubMed: 27063440
Takanosu, M., Takanosu, T., Suzuki, H., Suzuki, K. (2008). Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. J Small Anim Pract. 49(4):197-9. PubMed: 18339089
Malik, R., Allan, G.S., Howlett, C.R., Thompson, D.E., et al. (1999). Osteochondrodysplasia in Scottish Fold cats. Australian Veterinary Journal 77:85-92. PubMed: 10078353