Primary Ciliary Dyskinesia (PCD) - Eurasier
Clinical signs, course and prognosis
Affected Eurasier dogs frequently show persistent respiratory infections, chronic nasal discharge, coughing and recurrent pneumonia, often as early as puppyhood. The cause is the impaired clearance function of the airways, which means that mucus and germs are not transported away effectively. Some dogs also develop bronchiectasis (permanent widening of the bronchi). In addition, defective ciliary proteins can lead to reduced fertility; in PCD, sperm are less motile and the transport of the egg cells in the female genital tract is impaired. About half of the affected animals also show a so-called "situs inversus", in which the internal organs are arranged as a mirror image. The situs inversus itself does not cause any additional complaints. The prognosis depends on the intensity of the symptoms and the quality of the medical care. There is no cure for the underlying cause. Consistent airway care and targeted infection management can be used to try to improve the quality of life of the affected animals.
Causative mutation and how the DNA test works
The disease in the Eurasier is caused by a single-base deletion in the ZMYND10 gene (XM_038566363.1:c.860del). This change leads to a shift in the reading frame (frameshift) and thus to the emergence of a premature stop codon (XP_038422291.1:p.(Gln287Argfs*32), which shortens the protein by about 35 % and impairs its function.
The DNA test can be carried out on any material containing DNA. PCR and sequence data analysis are used to determine whether the mutation is present in one or two copies or is absent. This makes it possible to determine reliably whether a dog is free, a carrier or affected.
Possible genotypes and interpretation of the results
| Genotype | Designation | Meaning |
|---|---|---|
| N/N | homozygous for the wild type, free | The dog examined does not have the ZMYND10 c.860del mutation, is healthy and does not pass the disease on. Unrestricted suitability for breeding. |
| N/pcd | heterozygous carrier | The dog is not affected itself, but can pass the ZMYND10 c.860del mutation on to its offspring. Breeding use is only recommended with genetically free partners. |
| pcd/pcd | homozygous for the mutation - affected | The dog shows the typical symptoms of PCD and passes the mutation on to all of its offspring. To be excluded from breeding. |
Affected breeds
The c.860del mutation in the ZMYND10 gene has so far only been found in dogs of the Eurasier breed.
However, PCD as a cause of disease can also occur in other dog breeds, with different genes being responsible for the hereditary disease in each case.
Literature
- Schwarz, C., Jainek, H., Hetzel, U., Jagannathan, V., & Leeb, T. (2025, July). OP124: ZMYND10 frameshift deletion in Eurasier dogs with primary ciliary dyskinesia. In: Proceedings of the 38th International Society for Animal Genetics Conference (ISAG 2025), Cape Town, South Africa. Retrieved from https://www.isag.us/Docs/Proceedings/ISAG_2025_Abstracts.pdf