Primary Ciliary Dyskinesia (PCD) – Old English Sheepdog
Kodas: H414
Short description
Primary ciliary dyskinesia (PCD) is caused by a genetic mutation (CCD39 gene) that affects the cilia of cells.
General information
Primary ciliary dyskinesia (PCD) is caused by a genetic mutation (CCD39 gene) that affects the cilia of cells. The cilia (microscopic hair-like projections of cells that are able to move) play a role in the respiratory tract to remove bacteria and foreign material from the respiratory tract and helping to protect the lungs. And the cilia play a role in the reproductive tract.
Specifications
| Breeds | |
|---|---|
| Gene | CCDC39 |
| Chromosome | 34 |
| Mutation | c.286C>T |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PCD |
Clinical features
Dogs affected by primary ciliary dyskinesia show recurrent upper and lower respiratory tract infections (most importantly pneumonia). Affected dogs tend to have lower fertility due to the malfunction of the cilia. Signs are first seen in the first few days or weeks of life, with young puppies developing a mucoid nasal discharge and/or pneumonia.
References
Pubmed ID: 21131972
Year published: 2011
Omia ID: 1540
Omia variant ID:
Turnaround information
- 10 working days