Primary Ciliary Dyskinesia
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Primary Ciliary Dyskinesia
            
        
        
        
            OMIA
        
    
    
            1540
            
        
        
        
            Gene Name
        
    
    
            CCDC39
            
        
        
        
            Mutation
        
    
    
            C.286C>T
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            PCD is identified by a defects in cilia, during development, and is present from birth. Dogs experience frequent infections of the upper and lower respiratory tract. There are also reports of reduced fertility in males.
            
        
        
        
            Details 2
        
    
    
            Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormally functioning cilia. The main clinical signs are recurrent or persistent respiratory infections because of the lack of effective ciliary motility causing abnormal mucociliary clearance.[1] The dysfunction of the monocilia of the embryonic node might also lead to the randomization of the left-right body asymmetry and transposition of the thoracic and abdominal organs in 50% of the cases called the Kartagener's syndrome.[2] Male fertility can be impaired because of defects of the spermatozoa flagella. Disorders such as hydrocephalus or serous otitis have occasionally been reported. (from Merveille et al, 2014)
            
        
        
        
            Published
        
    
    
            Merveille, A.C., Davis, E.E., Becker-Heck et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43:72-8, 2011. Pubmed reference: 21131972. DOI: 10.1038/ng.726.
            
        
        
        
            Published 2
        
    
    
            Merveille, A.C., Battaille, G., Billen, F., Deleuze, S., Fredholm, M., Thomas, A., Clercx, C., Lequarré, A.S. : Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old english sheepdogs. J Vet Intern Med 28:771-8, 2014. Pubmed reference: 24773602. DOI: 10.1111/jvim.12336.
            
        
        
        
            Body/System/Process
        
    
    
            Respiratory
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Old English Sheepdog
            
        
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