Genes in which mutations cause primary ciliary dyskinesia, with corresponding cilia structural defects
| Gene | Function of encoded protein | Cilia ultrastructure in patients |
|---|---|---|
| DNAH5, DNAI1, DNAI2, DNAL1, NME8 | Outer dynein arm subunit | ODA |
| CCDC114, ARMC4 | Outer dynein arm targeting/docking complex subunit | ODA |
| DNAAF1, DNAAF2,DNAAF3,HEATR2, LRRC6, ZMYND10, DYX1C1, SPAG1 | Cytoplasmic dynein assembly factor | IDA+ODA |
| CCDC103, C21ORF59 | Cytoplasm/cilia dynein assembly factor | IDA+ODA |
| RSPH1, RSPH4A, RSPH9 | Radial spoke head subunit | CP |
| CCDC39, CCDC40 | Nexin link (dynein regulatory complex) factor | IDA+MT disarrangement |
| CCDC164, CCDC65 | Nexin link (dynein regulatory complex) subunit | Normal (nexin links absent) |
| HYDIN | Central microtubule pair subunit | Normal (CP subunit C2b absent) |
| DNAH11 | Outer dynein arm subunit | Normal |
| OFD1, RPGR | Non-motile cilia-related functions | Mixed |
CP, central microtubule pair; IDA, inner dynein arm; MT, microtubule; ODA, outer dynein arm.