ciliary dyskinesia—primary—10

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ciliary dyskinesia—primary—102016-11-25T09:12:34+00:00

ciliary dyskinesia—primary—10

CELL BIOLOGY

Definition A disorder (OMIM:612518) characterised by defects of cilia.

Cause and effect

• Defective respiratory cilia Respiratory infections and chronic inflammation

• Defective sperm tails Reduced fertility in male patients

• Defective monocilia at the embryonic node Half of patients have left-right body asymmetry and situs inversus (primary ciliary dyskinesia with situs inversus is known as Kartagener syndrome)

Molecular pathology Defects of DNAAF2, which encodes a protein involved in the dynein arm complexes that power cilia, and thus plays a central role in motility, cause ciliary dyskinesia—primary—10. 

References http://www.uniprot.org/uniprot/Q9NVR5

http://www.omim.org/entry/612518 

 

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