Table 1.
Major Classes of Ultrastructural Defects Seen in Primary Ciliary Dyskinesia and the Gene Associated with Each Defect
| Ultrastructural Defect | Gene | Immunofluorescence |
|---|---|---|
| Outer dynein arm defect | DNAH5 | DNAH5 absent |
| DNAI1 | ||
| ARMC4 | ||
| CCDC114 | ||
| TXNDC3 (NME8) | ||
| DNAI2 | ||
| DNAL1 | ||
| CCDC151 | ||
| Inner and outer dynein arm defect | C21orf59 | DNAH5 absent |
| ZYMND10 | DNALI1 absent | |
| CCDC103 | ||
| DNAFF2 (KTU) | ||
| DNAFF1 (LRRC50) | ||
| LRRC6 | ||
| DNAFF3 (C19orf31) | ||
| HEATR2 | ||
| DYX1C1 | ||
| SPAG1 | ||
| Central complex/transposition defect | RSPH4A | RSPH9, RSPH4A, and RSPH1 absent |
| RSPH9 | RSPH9 absent | |
| RSPH1 | RSPH9 and RSPH1 absent | |
| RSPH3 | All present | |
| Microtubular disorganization with loss of inner dynein arm | CCDC39 | DNALI1 absent |
| CCDC40 | GAS8 absent | |
| Microtubular disorganization with present inner dynein arms | CCDC65 | GAS8 absent |
| CCDC164 | ||
| GAS8 | ||
| Normal ciliary ultrastructure | HYDIN | All present |
| DNAH11 | ||
| OFD1 | ||
| RPGR | ||
| Ciliary “aplasia” | CCNO | All present |
| MCIDAS | DNAH5 and LI1 absent |
Definition of abbreviations: Absent = complete or partial absence from the axoneme.
Former gene name is shown in parentheses. Column three “Immunofluorescence” shows the assumed coverage of the six antibodies investigated in this study over the known ultrastructural and gene defects.