Primary Ciliary Dyskinesia (Old English Sheepdog Type)
Affected Genes: CCDC39
Inheritance: Autosomal Recessive
Variant(canFam6):
chr34:18034812: G>A
Breed: Old English Sheepdog
Sheepadoodle
General Information: Primary Ciliary Dyskinesia (PCD) is an inherited disorder seen in Old English Sheepdogs, characterized by dysfunctional or malformed cilia, the microscopic hair-like structures lining the respiratory tract, brain, and reproductive system. Normal cilia move in wave-like patterns to help clear particles and pathogens from the respiratory tract and facilitate fluid movement in the brain and reproductive system. In PCD, affected dogs are unable to clear respiratory pathogens effectively, leading to chronic respiratory issues such as coughing, sneezing, nasal discharge, sinusitis, bronchitis, and pneumonia. Affected male dogs are typically sterile due to immobile sperm. Additionally, some dogs may have situs inversus, a condition where internal organs are mirrored from their usual positions, which typically does not cause clinical problems. While dogs with PCD can live for many years, managing their chronic respiratory infections is crucial for maintaining their health.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information:
References:
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 Internal Med. 2014 28(3):771-778.
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 43(1):72-78.