Table 2.
Primary ciliary dyskinesia-causing genes and cilia ultrastructure defects of the study cohort
| PCD-causing Gene | Cilia Ultrastructure | N |
|---|---|---|
| DNAH5 | ODA | 22 |
| CCDC40 | IDA/MTD | 13 |
| CCDC39 | IDA/MTD | 10 |
| DNAI1 | ODA | 5 |
| DNAI2 | ODA | 4 |
| None identified | ODA | 4 |
| None identified | IDA/MTD | 3 |
| DNAH11 | Normal EM | 3 |
| SPAG1 | ODA/IDA | 2 |
| RSPH4A | CA | 2 |
| CCDC103 | ODA/IDA | 1 |
| CCDC114 | ODA | 1 |
| DNAAF1 (LRRC50) | ODA/IDA | 1 |
| HEATR2 | ODA/IDA | 1 |
| LLRC6 | ODA/IDA | 1 |
| RPGR (X-linked) | Normal EM | 1 |
| RSPH1 | CA | 1 |
| RSPH9 | CA | 1 |
| CCNO | Oligocilia | 1 |
Definition of abbreviations: CA = central apparatus; EM = electron micrographs; IDA = inner dynein arm; MTD = microtubular disorganization; ODA = outer dynein arm; PCD = primary ciliary dyskinesia.