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Primary ciliary dyskinesia (PCD-AM) - Alaskan Malamute Type
| Acronym: | PCD-AM |
| Gene: | NME5 |
| Mutation: | c.43delA |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dog Primary Ciliary Dyskinesia (PCD) is a genetic disorder that causes defects in upper and lower respiratory tract, as well as in the flagella of sperm cells, causing infertility. Previously it was known as immotile cilia syndrome (ICS). Until now, primary ciliary dyskinesia has been identified in more than 19 breeds including Alaskan malamutes. Respiratory signs are the most prominent, but there are other symptoms of the primary ciliary dyskinesia, such as otitis media, renal fibrosis or dilation of renal tubules and infertility in males and females. The cause of PCD in dogs is a mutation in CCDC39 gene that is involved in the motility of cilia and flagella. Cilia cells that are in the lining of the trachea have an important role of sweeping mucus and dirt out of lungs.
Dog Primary Ciliary Dyskinesia (PCD) is inherited as an autosomal recessive disorder. Dog carrying one copy of the mutated gene is heterozygous and will not show the PCD symptoms. Currently there is no cure for PCD and the only way to avoid obtaining affected puppies is to breed dogs which are not carriers of the mutation. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
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 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. PMID: 31479451; PMCID: PMC6743793.
Merveille, A., (2011): CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Edwards, DF., (1992): Primary ciliary dyskinesia in the dog. Probl Vet Med. 4 (2): 291-319.
Merveille, AC., (2014): Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs. J Vet Intern Med. 28 (3): 771-8.