Chondrodystrophy (CDDY and IVDD)
Breed: Cavalier King Charles Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Chondrodystrophy (CDDY and IVDD)
OMIA
189
Gene Name
FGF4 retrogene insertion on Ch 12:33,710,200 Mb (canFam3)
Mutation
On Ch 12; FGF4 retrogene insertion at 33,710,200 Mb
Test Type
Genetic Disease/Disorder
Details 2
"Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs... Long bone length in dogs is a unique example of multiple disease-causing retrocopies of the same parental gene in a mammalian species... Extensive examination of growth plates has been performed on many of these short-legged dog breeds (dachshund, Pekingese, French bulldog, spaniels, beagle), as these breeds are also prone to intervertebral disc disease (IVDD). Histopathological analysis of the bones of puppies from these breeds demonstrated that their short stature is due to defects in endochondral ossification, the process whereby cartilage is replaced with bone, in the developing limb. The long bone growth plates show disorganization of the proliferative zone and reduction in the depth of the maturation zone. In addition to the long bones, similar but more subtle changes exist in endochondral ossification of the vertebral bodies...In chondrodystrophic dogs, the nucleus pulposus is gradually replaced by chondrocyte-like cells in chondroid metaplasia (or metamorphosis) that occurs between birth and 1 y of age. Recent studies have shown that in advanced stages of degeneration in nonchondrodystrophoid dogs there is also replacement of notochordal cells by chondrocyte-like cells, similar to the changes observed in chondrodystrophoid dogs, although this happens at an older age. Hansen described the two different types of canine IVD prolapse as type I and type II. Type I occurs exclusively in chondrodystrophic breeds and is characterized by premature degeneration of all discs in young dogs. In type I disc disease, the calcified nucleus pulposus may undergo an explosive herniation through the annulus fibrous into the vertebral canal, resulting in inflammation and hemorrhage and causing severe pain and neurological dysfunction..." [Brown et. al, 2017]
Application Information
The application of this test will vary by breed. There is research (Batcher et. al) that indicates some populations of breeds, such as dachshund varieties, are "fixed" for this mutation. This means, in practice, that there are very few dogs in the population who do not carry the mutation, and therefore it may not be possible to breed away from - e.g. all dogs who are tested are "affected." It is strongly recommended that you review the breed-specfic references provided here and/or contact your local breed club for support in breeding decisions. Many breed clubs strongly recommend you undertake a clinical examination before breeding. This is extremely valuable in identifying lower-risk dogs. If you are testing for information on your own dog, and not for breeding plans, it is important to remember that a dog who tests affected for this mutation is at risk for developing the condition, but the test is not an indication of severity, age of onset, or that the disease will manifest in the dog's lifetime. There is research indicating that there could be other factors (such as environmental factors) that impact disease development. Your breed club, breed advisor, veterinarian, or test provider should be able to provide more information.
Published
2017, Brown, E.A., Dickinson, P.J., Mansour, T., Sturges, B.K., Aguilar, M., Young, A.E., Korff, C., Lind, J., Ettinger, C.L., Varon, S., Pollard, R., Brown, C.T., Raudsepp, T., Bannasch, D.L. : FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A 114:11476-11481, 2017. Pubmed reference: 29073074. DOI: 10.1073/pnas.1709082114.
Published 2
Batcher, K., P. Dickinson, M. Giuffrida, B. Sturges, K. Vernau, M. Knipe, S. H. Rasouliha, C. Drogemuller, T. Leeb, K. Maciejczyk, C. A. Jenkins, C. Mellersh and D. Bannasch, (2019) Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. Genes (Basel), 10,
Body/System/Process
Skeletal
Inheritance
ADIP
Breed Specific Info
Researched Breeds
Alpine Dachsbracke, American Cocker Spaniel, Australian Shepherd, Basset Hound, Bavarian Mountain Hound, Beagle, Bichon Frise, Boykin Spaniel, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, Chinese Crested, Clumber Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, Danish Swedish Farmdog, English Springer Spaniel, Entlebucher Mountain Dog, French Bulldog, German Hound, Havanese, Jack Russell Terrier, Maltese, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Pinscher (Miniature), Poodle (Miniature and Toy), Poodle (Standard), Portuguese Water Dog, Pug, Rat Terrier, Russian Tsvetnaya Bolonka, Schweizer Laufhund, Schweizerischer Niederlaufhund, Scottish Terrier, Sealyham Terrier, Shih Tzu, Skye Terrier, and Yorkshire Terrier
Breed-specific 1
ALL BREEDS TESTING FOR THIS MUTATION
Breed-specific 1 Details
Breed-specific 2
Dachschund (all varieties)
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
FGF4
Mutation
Chromasome 12
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
CDDY Chrondrodystrophy, IVVD risk & CDPA
Gene Name
FGF4
Mutation
Chromasome 12
Mutation Comment
insertion on CFA12 is 3,209 bp long
Nature of test
mutation test
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
GTP Disease Name
CDDY Chrondrodystrophy, IVVD risk & CDPA
Gene Name
FGF4
Mutation
Chromasome 12