Table 1.
Ultrastructural and genetic findings
| PCD-causing Gene | ODA | ODA/IDA | IDA/MTD | Normal/Near Normal | Total |
|---|---|---|---|---|---|
| None identified | — | 1 | 1 | — | 2 |
| DNAH5 | 40 | — | — | — | 40 |
| DNAI1 | 9 | — | — | — | 9 |
| DNAI2 | 5 | — | — | — | 5 |
| CCDC114 | 2 | — | — | — | 2 |
| ARMC4 | 1 | — | — | — | 1 |
| LRRC6 | — | 3 | — | — | 3 |
| DNAAF4 (DYX1C1) | — | 3 | — | — | 3 |
| CCDC103 | — | 2 | — | — | 2 |
| DNAAF4 (HEATR2) | — | 2 | — | — | 2 |
| SPAG1 | — | 2 | — | — | 2 |
| DNAAF1(LRRC50) | — | 2 | — | — | 2 |
| DNAAF2 (KTU) | — | 1 | — | — | 1 |
| DNAAF3 | — | 2 | — | — | 2 |
| PIH1D3 (X-linked) | — | 1 | — | — | 1 |
| CCDC40 | — | — | 21 | — | 21 |
| CCDC39 | — | — | 18 | — | 18 |
| DNAH11 | — | — | — | 11 | 11 |
| RPGR (X-linked) | — | — | — | 1 | 1 |
| CCNO | — | — | — | 4 | 4 |
| RSPH4A | — | — | — | 3 | 3 |
| RSPH1 | — | — | — | 1 | 1 |
| RSPH9 | — | — | — | 1 | 1 |
| HYDIN | — | — | — | 3 | 3 |
| PIK3CD | — | 1 | — | 0 | 1 |
| Total | 57 | 20 | 40 | 24 | 141 |
Definition of abbreviations: IDA = inner dynein arm; MTD = microtubular disorganization; ODA = outer dynein arm; PCD = primary ciliary dyskinesia.