Table S2. Gene mutations leading to primary ciliary dyskinesia.
| Gene | Chromosome location | Electron microscopic characteristics of biallelic gene mutation | Proportion of biallelic gene mutation | OMIM code# |
|---|---|---|---|---|
| DNAH5 | 5p15.2 | ODA defect | Accounting for 15–21% of patients with PCD, and 27–38% of PCD patients with ODA defect | 608644 |
| DNAI1 | 9p21-p13 | ODA defect | Accounting for 2–9% of patients with PCD, and 4–13% of PCD patients with ODA defect | 244400 |
| DNAI2 | 17q25 | ODA defect | Accounting for 2% of patients with PCD, and 4% of PCD patients with ODA defect | 612444 |
| DNAL1 | 14q24.3 | ODA defect | NA | 614017 |
| CCDC114 | 19q13.32 | ODA defect | Accounting for 6% of PCD patients with ODA defect | 615038 |
| TXNDC3 (NME8) | 7p14-p13 | Partial ODA defect | NA | 610852 |
| DNAAF1 (LRRC50) | 16q24.1 | ODA + IDA defect | Accounting for 17% of PCD patients with ODA and defect | 613193 |
| DNAAF2 (KTU) | 14q21.3 | ODA + IDA defect | Accounting for 12% of PCD patients with ODA and defect | 612517, 612518 |
| DNAAF3 (C19ORF51) | 19q13.42 | ODA + IDA defect | NA | 606763 |
| CCDC103 | 17q21.31 | ODA + IDA defect | NA | 614679 |
| HEATR2 | 7p22.3 | ODA + IDA defect | NA | 614864 |
| LRRC6 | 8q24 | ODA + IDA defect | Accounting for 11% of PCD patients with ODA and defect | 614930 |
| CCDC39 | 3q26.33 | IDA defect and disoriented axonemal cilia | Accounting for 36–65% of cases with IDA defect and disoriented axonemal cilia in patients with PCD | 613798 |
| CCDC40 | 17q25.3 | IDA defect and disoriented axonemal cilia | Accounting for 24–54% of cases with IDA defect and disoriented axonemal cilia in patients with PCD | 613808 |
| RSPH4A | 6q22.1 | Mostly normal, with central axonemal defect in a minority of cases | NA | 612649 |
| RSPH9 | 6p21.1 | Mostly normal, with central axonemal defect in a minority of cases | NA | 612648 |
| HYDIN | 16q22.2 | Mostly normal, occasionally with central axonemal defect | NA | 610812 |
| DNAH11 | 7p21 | Normal | Accounting for 6% of patients with PCD, and 22% of PCD patients with normal ciliary ultrastructure | 603339 |
| RPGR | Xp21.1 | Mixed | PCD with X-linked retinitis | 300170 |
| OFD1 | Xq22 | NA | PCD with X-linked intelligence disorders | 312610 |
| CCDC164 (C2ORF39) | 2p23.3 | N-DRC defect; central axonemal defect in a minority of cases | NA | 312610 |
Currently, there have been various genetic mutants associated with PCD pathogenesis, we herein have listed the most common mutants with known functions. CA, central axoneme; IDA, inner dynein arm; NA, not available; N-DRC, nexin-dynein regulatory complex; ODA, outer dynein arm; PCD, primary ciliary dyskinesia.