The test checks for two mutations: Chondrodystrophy with intervertebral disc disease risk (CDDY with IVDD risk) and Chondrodysplasia (CDPA).
The CDDY (FGF4-12) mutation causes short legs and the risk of developing IVDD. CDDY is inherited as a semi-dominant trait which means that dogs with 2 copies of the mutation are smaller than dogs with only 1 copy. As for IVDD, the inheritance follows a dominant mode, meaning that 1 copy of CDDY mutation is sufficient to predispose dogs to IVDD.
The CDPA (FGF4-18) mutation causes the short legged phenotype in a number of breeds. CDPA is an inheritance autosomal dominant disorder.
CDDY with IVDD Risk is a trait that is common to many dog breeds and it is characterised by shorter legs due to shorter long bones. CDDY can also be associated with IVDD due to premature degeneration of the intervertebral disc.
The intervertebral disc lie between the vertebrae and it is made of a cartilage which separate vertebrae from each other, absorb shocks and allow slight movement of the vertebrae. In affected dogs, premature calcification of part of the disc from birth to 1 year of age results in degeneration of all discs in young dogs. These abnormal discs are susceptible to herniation into the spinal canal, the inflammation and haemorrhage can cause severe pain and neurological dysfunction.
The CDDY mutation has been found in the following breeds: Basset Hound, Beagle, Bichon Frise, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, American Cocker Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, English Springer Spaniel, French Bulldog, Havanese, Jack Russell Terrier, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Poodle (Miniature and Toy), Portuguese Water Dog, Scottish Terrier, Shih Tzu.
The second mutation CDPA explains the short-legged phenotype known as chondrodysplasia in breeds such as Basset Hound, Pembroke Welsh Corgi, Dachshunds, West Highland White Terriers and Scottish Terriers.
Genetic testing is available to identify affected dogs. In some breeds both mutations are present and so breeders will be able to plan breeding to reduce occurrence of CDDY, while retaining the short-legged phenotype CDPA.
Gene Tested : FGF4-18