Part of this work was presented as an abstract at the 20th ECVIM-CA Annual Congress 2010, Toulouse, France.
Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs
Article first published online: 12 MAR 2014
Copyright © 2014 by the American College of Veterinary Internal Medicine
Journal of Veterinary Internal Medicine
Volume 28, Issue 3, pages 771–778, May/June 2014
How to Cite
Merveille, A.-C., Battaille, G., Billen, F., Deleuze, S., Fredholm, M., Thomas, A., Clercx, C. and Lequarré, A.-S. (2014), Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs. Journal of Veterinary Internal Medicine, 28: 771–778. doi: 10.1111/jvim.12336
- Issue published online: 28 APR 2014
- Article first published online: 12 MAR 2014
- Manuscript Accepted: 23 JAN 2014
- Manuscript Revised: 18 OCT 2013
- Manuscript Received: 14 JUL 2013
- European Union. Grant Numbers: FP7-LUPA, GA-201370
- Fonds de la Recherche Scientifique
- CCDC39 ;
- Ciliary dysfunction;
Primary ciliary dyskinesia (PCD) is generally a recessively inherited disorder characterized by dysfunction of motile cilia. A mutation in a new causative gene (CCDC39) has been identified in the Old English Sheepdog (OES).
To describe the clinical findings and the molecular changes of affected dogs and estimate the worldwide prevalence of the mutation in a large cohort of OES.
578 OES, including 28 affected and 550 clinically healthy dogs.
This retrospective study reviewed the data of OES diagnosed with PCD and OES tested for the mutation. Clinical data including results of physical examination and further investigations were obtained on 11/28 dogs. CCDC39 expression was assessed by qRT-PCR and Western blot analysis in affected dogs and healthy dogs. DNA was extracted on 561/578 dogs and a genetic test by Taqman technology was developed to genotype the CCDC39 mutation in these dogs.
Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia. Ultrastructural defects were characterized by central microtubular abnormalities and decreased number of inner dynein arms (IDAs). Molecular analysis revealed a reduced expression of CCDC39 RNA and an absence of CCDC39 protein in affected dogs compared to healthy dogs. The mutation was more frequent in nonrandomly selected European OES population with a higher proportion of carriers (19%) compared to non-European dogs (7%).
Conclusion and Clinical Importance
CCDC39 mutation is dispersed in a worldwide population and is responsible for PCD in this breed. Genetic testing might enable control of this disease.