Ciliary dyskinesia, CCDC39-related

Disease overview

Primary Ciliary Dyskinesia is a multisystem disease that arises from a mutation in a gene which is required for the proper movement and function of tiny hairlike structures, called cilia, that line the airways. This condition affects sperm flagellum. Around 50% of affected dogs also have a condition called situs inversus, or reversed internal organs.

Gene name

CCDC39

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs may exhibit exercise intolerance and have increased susceptibility to respiratory infections. Symptoms may include recurrent nasal discharge, sneezing, coughing, and respiratory distress. Reduced fertility or infertility in males may be present.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Radiographs and ultrasound can be used to determine if situs inversus is present. Lab work may be indicated. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Old English Sheepdog, Schnauzer

Citations

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5. PMID: 21131972; PMCID: PMC3509786.

Hedgespeth BA, Birkenheuer AJ, Friedenberg SG, Olby NJ, Meurs KM. A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections. J Vet Intern Med. 2021 May;35(3):1542-1546. doi: 10.1111/jvim.16100. Epub 2021 Mar 23. PMID: 33755251; PMCID: PMC8162599.

Merveille AC, Battaille G, Billen F, Deleuze S, Fredholm M, Thomas A, Clercx C, Lequarré AS. Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs. J Vet Intern Med. 2014 May-Jun;28(3):771-8. doi: 10.1111/jvim.12336. Epub 2014 Mar 12. PMID: 24773602; PMCID: PMC4895470.