Table 1.
Ultrastructural and Genetic Findings
| PCD-Causing Gene | ODA | ODA/IDA | IDA/CA/MTD | Normal EM | Other: Oligocilia | Other: CA | Total |
|---|---|---|---|---|---|---|---|
| None identified | 4 | 3 | 7 | — | — | 1 | 15 |
| DNAH5 | 36 | — | — | — | — | — | 36 |
| DNAI1 | 7 | — | — | — | — | — | 7 |
| DNAI2 | 5 | — | — | — | — | — | 5 |
| CCDC114 | 2 | — | — | — | — | — | 2 |
| ARMC4 | 1 | — | — | — | — | — | 1 |
| LRRC6 | — | 3 | — | — | — | — | 3 |
| DYX1C1 | — | 3 | — | — | — | — | 3 |
| CCDC103 | — | 2 | — | — | — | — | 2 |
| HEATR2 | — | 2 | — | — | — | — | 2 |
| SPAG1 | — | 2 | — | — | — | — | 2 |
| DNAAF1 | — | 2 | — | — | — | — | 2 |
| DNAAF2 | — | 1 | — | — | — | — | 1 |
| DNAAF3 | — | 1 | — | — | — | — | 1 |
| PIH1D3 (X-linked) | — | 1 | — | — | — | — | 1 |
| CCDC40 | — | — | 18 | — | — | — | 18 |
| CCDC39 | — | — | 16 | — | — | — | 16 |
| DNAH11 | — | — | — | 11 | — | — | 11 |
| RPGR (X-linked) | — | — | — | 1 | — | — | 1 |
| CCNO | — | — | — | — | 4 | — | 4 |
| RSPH4A | — | — | — | — | — | 2 | 2 |
| RSPH1 | — | — | — | — | — | 1 | 1 |
| RSPH9 | — | — | — | — | — | 1 | 1 |
| Total | 55 | 20 | 41 | 12 | 4 | 5 | 137 |
Definition of abbreviations: CA = central apparatus; EM = electron micrographs; IDA = inner dynein arm; MTD = microtubular disorganization; ODA = outer dynein arm; PCD = primary ciliary dyskinesia.
The 20 participants with diagnosis confirmed by genetics alone are classified into the appropriate ciliary defect group based on their PCD-causing gene mutations.