Table 1.
Genes associated with primary ciliary dyskinesia and corresponding ultrastructure.
| Genea | Axonemal/cellular structure or function |
|---|---|
| DNAH5, DNAI1, DNAI2, DNAL1, NME8 (TXNDC3) | Outer dynein arm (ODA) subunit |
| CCDC114, ARMC4, CCDC151, TTC25 | ODA targeting/docking factor |
| DNAAF1 (LRRC50), DNAAF2 (KTU), DNAAF3, HEATR2, LRRC6, ZMYND10, DYX1C1 (DNAAF4), SPAG1, CCDC103, C21ORF59 | Cytoplasmic dynein arm assembly or transport factor |
| RSPH1, RSPH3, RSPH4A, RSPH9 | RSPH subunit |
| CCDC39, CCDC40 | NL/DRC factor |
| CCDC164, CCDC65 | NL subunit |
| DNAH11 | ODA subunit |
| HYDIN | CP subunit |
| CCNO, MCIDAS | CCNO: cytoplasmic centriole assembly and docking factor; MCIDAS: nuclear regulator of CCNO and FOXJ1 |
| OFD1, RPGR | Functions related to non-motile cilia; role in motile cilia unknown |
aReferences can be obtained from authors.