Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs
Background 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). Objectives To describe the clinical findings and the molecular ch...
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| Format: | Article |
| Language: | English |
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Wiley
2014-05-01
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| Series: | Journal of Veterinary Internal Medicine |
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| Online Access: | https://doi.org/10.1111/jvim.12336 |
| _version_ | 1811237666541273088 |
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| author | A.‐C. Merveille G. Battaille F. Billen S. Deleuze M. Fredholm A. Thomas C. Clercx A.‐S. Lequarré |
| author_facet | A.‐C. Merveille G. Battaille F. Billen S. Deleuze M. Fredholm A. Thomas C. Clercx A.‐S. Lequarré |
| author_sort | A.‐C. Merveille |
| collection | DOAJ |
| description | Background 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). Objectives 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. Animals 578 OES, including 28 affected and 550 clinically healthy dogs. Methods 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. Results 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. |
| first_indexed | 2024-04-12T12:27:15Z |
| format | Article |
| id | doaj.art-13750537e62147c18fceaa4744cba654 |
| institution | Directory Open Access Journal |
| issn | 0891-6640 1939-1676 |
| language | English |
| last_indexed | 2024-04-12T12:27:15Z |
| publishDate | 2014-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Veterinary Internal Medicine |
| spelling | doaj.art-13750537e62147c18fceaa4744cba6542022-12-22T03:33:07ZengWileyJournal of Veterinary Internal Medicine0891-66401939-16762014-05-0128377177810.1111/jvim.12336Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English SheepdogsA.‐C. Merveille0G. Battaille1F. Billen2S. Deleuze3M. Fredholm4A. Thomas5C. Clercx6A.‐S. Lequarré7Department of Clinical Sciences Faculty of Veterinary Medicine University of Liège Liège BelgiumDepartment of Clinical Sciences Faculty of Veterinary Medicine University of Liège Liège BelgiumDepartment of Clinical Sciences Faculty of Veterinary Medicine University of Liège Liège BelgiumDepartment of Clinical Sciences Faculty of Veterinary Medicine University of Liège Liège BelgiumDepartment of Veterinary Clinical and Animal Sciences Faculty of Health and Medical Sciences University of Copenhagen Frederiksberg DenmarkAntagene Animal Genetics Laboratory Limonest FranceDepartment of Clinical Sciences Faculty of Veterinary Medicine University of Liège Liège BelgiumDepartment of Clinical Sciences Faculty of Veterinary Medicine University of Liège Liège BelgiumBackground 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). Objectives 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. Animals 578 OES, including 28 affected and 550 clinically healthy dogs. Methods 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. Results 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.https://doi.org/10.1111/jvim.12336BronchopneumoniaCCDC39Ciliary dysfunctionDogGenetic |
| spellingShingle | A.‐C. Merveille G. Battaille F. Billen S. Deleuze M. Fredholm A. Thomas C. Clercx A.‐S. Lequarré Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs Journal of Veterinary Internal Medicine Bronchopneumonia CCDC39 Ciliary dysfunction Dog Genetic |
| title | Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs |
| title_full | Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs |
| title_fullStr | Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs |
| title_full_unstemmed | Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs |
| title_short | Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs |
| title_sort | clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old english sheepdogs |
| topic | Bronchopneumonia CCDC39 Ciliary dysfunction Dog Genetic |
| url | https://doi.org/10.1111/jvim.12336 |
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