<unk>  is a genetically heterogeneous disorder affecting motile cilia which are made up of approximately 250 proteins. Around 90% of individuals with<unk>  have ultrastructural defects affecting protein(s) in the outer and/or inner dynein arms, which give cilia their motility, with roughly 38% of these defects caused by mutations on two genes, DNAI1 and DNAH5, both of which code for proteins found in the<unk>  outer dynein arm. There is an international effort to identify genes that code for inner dynein arm proteins or proteins from other<unk>  structures (radial spokes, central apparatus, etc.) associated with<unk> . The role of DNAH5 in heterotaxy syndromes and left-right asymmetry is also under investigation. At least 32 genes have been implicated in this condition. Type OMIM Gene Locus CILD1 DNAI1 9p21-p13 CILD2 ? 19q13.3-qter CILD3 DNAH5 5p CILD4 ? 15q13 CILD5 ? 16p12 CILD6 TXNDC3 7p14-p13 CILD7 DNAH11 7p21 CILD8 ? 15q24-q25 CILD9 DNAI2 17q25 CILD10 KTU 14q21.3 CILD11 RSPH4A 6q22 CILD12 RSPH9 6p21 CILD13 LRRC50 16q24.1 Another gene associated with this condition is GAS2L2.
Primary ciliary dyskinesia
Cystic fibrosis
Eustachian tube dysfunction
MOG antibody disease
Goldenhar syndrome
Oculopharyngeal muscular dystrophy
Adventitial cystic disease
Wolfram syndrome