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Short legs in dogs can be caused by two mutations in the functional fibroblast growth factor 4 (FGF4).
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Specifications
| Breeds | Chinese Crested, Dandie Dinmont Terrier, Havanese, Poodle (Miniature), Poodle (Toy), American Cocker Spaniel, Basset Hound, Beagle, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, Coton de Tulear, Dachshund, English Springer Spaniel, French Bulldog, Jack Russell Terrier, Nova Scotia Duck Tolling Retriever, Pekingese, Scottish Terrier, Shih-Tzu |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Short legs in dogs can be caused by two mutations in the functional fibroblast growth factor 4 (FGF4). This gene is crucial in biological processes, including bone development. The mutations are found on chromosome 12 (FGF4L2) and 18 (FGF4L1).
The mutation analysed in this test is the one found on chromosome 12, which leads to Chondrodystrophy (CDDY). Chondrodystrophy (CDDY) is a semi-dominant trait that is characterised by a short-legged phenotype: Dogs with 2 copies of the mutation are smaller than dogs with only 1 copy, that are already smaller than unaffected dogs.
The same mutation can also lead to degeneration of intervertebral discs, which means that dogs with the mutation are more susceptible to Hansen’s type I intervertebral disc disease (IVDD). IVDD follows a dominant mode of inheritance, meaning that 1 copy of CDDY mutation is already increasing the risk of developing IVDD. This disease has been found in many different breeds, particularly breeds with short legs and/or long backs including Dachshunds, Corgis, and Basset Hounds.
Clinical features
The mutation in chromosome 12 can lead to degeneration of intervertebral discs (also referred to as intervertebral disc disease, IVDD). These intervertebral discs act as cushions between the vertebrae in the spine, providing support and flexibility to the backbone. In IVDD, degeneration and eventually herniation will lead to compression of the spinal cord or nerves. Symptoms of IVDD in dogs can vary depending on the severity of the condition and the location of the affected disc(s). Common signs include abnormal walking, hunched back or neck with tense muscles, paralysis, reluctance to move and incontinence.
Additional information
Although the mutation on chromosome 12 follows a dominant mode of inheritance, dogs with intervertebral disc disease (IVDD) do not necessarily develop clinical signs. On the other hand, dogs with disc herniation or clinical signs of spinal cord compression might not carry the mutation.
References
Pubmed ID: 29073074
Omia ID: 157