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Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a disorder found to affect formation of the tiny hairs in the respiratory system called cilia, resulting in recurrent respiratory tract infections. As cilia throughout the various body systems are affected, it can also impact hearing and cause infertility in males.

Found in

1 in 5,000 dogs

in our testing

Key Signs

Respiratory tract inflammations, Infertility in males and females, Hearing difficulties

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with PCD

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about PCD

The clinical signs of PCD include respiratory tract inflammation such as pneumonia and also infertility caused by inadequate cilia function in the sperm and oviduct. Hearing difficulties can occur as well. If primary ciliary dyskinesia is associated with situs inversus (mirrored internal organs), the condition is called Kartagener syndrome. When situs inversus occurs, the heart for example, is located on the right side of the chest.

Therapy is limited to symptomatic treatments for resulting infections and general supportive care. There is no cure.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the PCD mutation can be safely bred with a clear dog with no copies of the PCD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the PCD mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the PCD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene CCDC39
Variant C>T
Chromosome 34
Coordinate 13,952,270

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Merveille, A. C., Davis, E. E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., … Amselem, S. (2011). CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nature Genetics, 43(1), 72–78. View the article