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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
