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Primary Ciliary Dyskinesia (PCD) is an autosomal recessive genetic disorder in the Eurasier breed caused by mutations in the Zinc finger MYND-type containing 10 (ZMYND10) gene.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.860del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | PCD |
Informations générales
Primary Ciliary Dyskinesia (PCD) is an autosomal recessive genetic disorder in the Eurasier breed caused by mutations in the Zinc finger MYND-type containing 10 (ZMYND10) gene. This gene is essential for the normal development and function of motile cilia, which are microscopic hair-like structures lining the respiratory tract that help remove mucus, debris, and microorganisms from the airways. When cilia are dysfunctional, this clearance mechanism is impaired, leading to chronic respiratory disease.
Caractéristiques cliniques
Affected dogs typically show clinical signs from puppyhood or early life. Common signs include persistent nasal discharge, chronic coughing, recurrent respiratory infections, bronchitis, pneumonia, and difficulty breathing. Due to impaired mucociliary clearance, affected animals are highly susceptible to recurrent bacterial infections and chronic inflammation of the airways. In some cases, reduced fertility may also be observed, particularly in males. The severity of clinical signs can vary, but the disease often leads to a reduced quality of life and may require ongoing veterinary care.
Additional Information
Références
Pubmed ID: ISAG abstract book
Year published: 2025
Omia ID: N/A
Omia variant ID: