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Folded Ears with Osteochondrodysplasia (Feline)

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Test Overview:

Folded Ears with Osteochondrodysplasia is present in the Scottish Fold cat breed. With their forward folded ears, Scottish Fold cats have dominantly inherited the Osteochondrodysplasia. As well as the folded ears, this disorder comes with musculoskeletal defects such as limb and nail tip malformations and joint destruction.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

TRPV4

Variant Detected:

c.1024G>T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

Genetic testing

Research Citation(s):

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

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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