Primary Ciliary Dyskinesia (Alaskan Malamute Type)
Affected Genes: NME5
Inheritance: Autosomal Recessive
Variant(canFam6):
chr11:24558340: 1 bp deletion T
Breed: Alaskan Malamute
General Information: Primary Ciliary Dyskinesia (PCD) in Alaskan Malamutes is an inherited condition where the cilia, which are hair-like structures in the respiratory tract and other organs, fail to function properly. This defect prevents the cilia from effectively clearing mucus and pathogens from the respiratory system, leading to persistent respiratory symptoms such as coughing, sneezing, and nasal discharge from a young age. Affected dogs are prone to recurrent infections like sinusitis, bronchitis, and pneumonia. Male dogs often experience infertility due to immotile sperm. Some affected individuals may also exhibit situs inversus (reversed organ positioning) and hydrocephalus (fluid accumulation in the brain). Despite these challenges, with careful management of respiratory infections, affected dogs can lead extended lives.
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: Genetic testing for the NME5 gene helps identify carriers of Primary Ciliary Dyskinesia (PCD) in Alaskan Malamutes, vital for making informed breeding decisions. PCD is transmitted in an autosomal recessive pattern, which means that two copies of the defective gene, one from each parent, are necessary for a dog to express the disease. Dogs that carry one copy of the mutation are asymptomatic carriers and, if bred with another carrier, each offspring has a 25% chance of being affected and a 50% chance of becoming a carrier. It's crucial to test breeding dogs to prevent the birth of affected puppies by avoiding mating between carriers. By responsibly utilizing genetic testing, breeders can substantially reduce the occurrence of this disorder in future generations, ensuring healthier generations of Alaskan Malamutes. Dogs without the mutation pose no risk of passing on PCD, although a clear genetic test does not exclude the possibility of other unrelated genetic conditions.
References:
Anderegg L, Im Hof Gut M, Hetzel U, Howerth EW, Leuthard F, Kyöstilä K, Lohi H, Pettitt L, Mellersh C, Minor KM, Mickelson JR, Batcher K, Bannasch D, Jagannathan V, Leeb T. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet. 2019 15(9):e1008378.
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.