Table 1.
Genes with mutations linked to primary ciliary dyskinesia. ODA—outer dynein arms, IDA—inner dynein arms.
| Gene | Structural Defect |
|---|---|
| Abnormalities in dynein proteins | |
| DNAI1 | ODA defect (+/− IDA) |
| DNAH5 | ODA defect (+/− IDA) |
| DNAH11 | Beat abnormalities (normal structure) |
| DNAI2 | ODA defect |
| DNALI1 | ODA defect |
| TXNDC3 | ODA defect |
| ARMC4 | ODA defect |
| Genes coding for proteins responsible for assembly or transport of axonemal proteins | |
| KTU | ODA and IDA defects |
| LRRC50 | ODA and IDA defects |
| DNAAF3 | ODA and IDA defects |
| CCDC39 | ODA and IDA defects |
| CCDC40 | Axone disorganisation and IDA defect |
| CCDC103 | ODA and IDA defects |
| CCDC114 | ODA defect |
| HEATR2 | Absent ODA |
| CCDC65 | Cilial vibration, normal structure |
| ZMYND10 | Absent ODA + IDA |
| SPAG1 | Absent ODA + IDA |
| C21orf59 | Absent ODA + IDA |
| Central pair abnormalities | |
| RSPH9 | Central pair defects |
| RSPH4A | Central pair defects |
| RSPH1 | Central pair defects |
| HYDIN | Central pair defects |
| Nexin-dynein complex defects | |
| DRC CCDC164 | Nexin link missing |
| CCDC65 | Beat abnormalities |
| Genes causing PCD with associated syndromes | |
| OFD1 | Unknown |
| RPGR | Variable |