Osteochondrodysplasia / Scottish Fold (TRPV4-related) - Cat

Osteochondrodysplasia in Scottish Fold cats

This genetic test examines the TRPV4 variant c.1024G>T. The condition is also known as osteochondrodysplasia, Scottish Fold osteochondrodysplasia, SFOCD, Scottish Fold osteodystrophy, folded ears. The variant causes the characteristic folded-ear shape, but also affects cartilage and bone development. Cats can develop thick or stiff tails, malformed toes, lameness, pain and progressive osteoarthritis. Two copies usually produce a much more severe phenotype than one copy.

What is tested?

• The gene: TRPV4.
• The variant: c.1024G>T.
• The inheritance pattern: autosomal incomplete dominant.
• The scope: Scottish Fold and source-supported fold lines.

Practical value of this test

The result shows whether the cat carries zero, one or two copies of the TRPV4 variant. This helps breeders avoid fold x fold matings, reduce the chance of severe skeletal problems and interpret the ear and skeleton phenotype correctly.