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Chondrodystrophy and IVDD Risk (CDDY-IVDD)

Chondrodystrophy And IVDD Risk (CDDY-IVDD)

Intervertebral Disc Disease, CDDY with IVDD, Hansen's Type I IVDD

Many dog breeds are defined by the presence of shortened legs that result from abnormal growth of cartilage and changes in the structure of growth plates. This leads to shortened leg bones that exhibit a bowed appearance. Two conditions have been described that cause shortened legs and are known as Chondrodysplasia (CDPA) and Chondrodystrophy (CDDY).

The CDDY-IVDD mutation leads to shortened legs but more importantly, can also put a dog at risk for premature degeneration of intervertebral discs known as Intervertebral Disc Disease (IVDD). The intervertebral disc sits between the vertebrae and allows for flexibility of the vertebral column. In dogs that carry the CDDY mutation, premature calcification can lead to the degeneration of discs in dogs at a young age resulting in herniation, inflammation, and hemorrhage in the spinal cord. This can ultimately lead to severe pain and neurological dysfunction typical for IVDD.

Reading Your Results

A. (CLEAR/NORMAL):

These dogs have two copies of the normal gene and do not possess the mutation that leads to shortened legs and increased IVDD risk.

B. (CARRIER/AFFECTED):

These dogs have one copy of the normal gene and one copy of the mutation associated with shortened legs and increased IVDD risk. They will have shortened legs and are at risk for IVDD. If bred, these dogs will pass the mutation to 50% of their offspring, on average.

C. (AT RISK/AFFECTED):

These dogs have two copies of the mutation associated with shortened legs and increased IVDD risk. They will have shortened legs and are at risk for IVDD. If bred, these dogs will pass the mutation to 100% of their offspring, on average.

Additional Details

Inheritances

Autosomal Dominant

Affected gene

FGF4L2

Chromosome

Ch. 12

Mutation

3,209 Bp Long Insertion Containing A FGF4 Retrogene

Publication:

Brown EA, Dickinson PJ, Mansour T, Sturges BK, Aguilar M, Young AE, Korff C, Lind J, Ettinger CL, Varon S, Pollard R, Brown CT, Raudsepp T, Bannasch DL. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):11476-11481. doi: 10.1073/pnas.1709082114. [PubMed: 29073074]