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Primary Ciliary Dyskinesia

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Primary Ciliary Dyskinesia
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.
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