CELL BIOLOGY, MOLECULAR MEDICINE
Definition A disorder (OMIM: 612650) characterised by defective ciliary motility, resulting in respiratory infections, leading to chronic inflammation and recurrent bronchiectasis–due to defects in respiratory cilia; reduced male fertility–due to abnormalities of sperm tails; half of patients also have situs inversus*–due to dysfunction of monocilia at the embryonic node and randomisation of left-right body asymmetry.
*Primary ciliary dyskinesia with situs inversus is known as Kartagener syndrome.
Molecular pathology Defects of RSPH9, which encodes a protein component of the radial spoke head in motile cilia and flagella, cause ciliary dyskinesia—primary—type 12.
Synonyms Ciliary dyskinesia—primary—without situs inversus, primary ciliary dyskinesia type 12