Table 3 Genes associated with PCD and corresponding ultrastructure
From: Diagnosis and management of primary ciliary dyskinesia
| Gene | Reference | Axonemal/cellular structure or function | Routine TEM | Routine IF | ||
|---|---|---|---|---|---|---|
| Informative a | Finding | Informative a | Abnormal staining with antibodies against | |||
| DNAH5, DNAI1, DNAI2, DNAL1, NME8 (TXNDC3) | [42-46] | ODA subunit | ✓ | ODA-defect | ✓ | ODA component |
| CCDC114, ARMC4, CCDC151 | [47-49] | ODA targeting/docking factor | ✓ | ODA-defect | ✓ | ODA component |
| DNAAF1 (LRRC50), DNAAF2 (KTU), DNAAF3, HEATR2, LRRC6, ZMYND10, DYX1C1 (DNAAF4), SPAG1, CCDC103, C21ORF59 | [38,50-58] | Cytoplasmic dynein arm assembly or transport factor | ✓ | IDA + ODA defect | ✓ | ODA component + IDA component |
| RSPH1, RSPH4A, RSPH9 | [40,59] | RSPH subunit | (✘) | Missing CP or TTD; often normal | ✓ | RSPH components |
| CCDC39, CCDC40 | [39,60] | NL/DRC factor | ✓ | microtubular disorganisation + IDA-defect | ✓ | DRC components + IDA components |
| CCDC164, CCDC65 | [26,58] | NL subunit | ✘ | NL defect only rarely discernible | ✓ | NL components |
| DNAH11 | [36] | ODA subunit | ✘ | Normal | ✘ | |
| HYDIN | [27] | CP subunit | ✘ | Normal (C2b absence only visible in TEM tomography) | ✘ | |
| CCNO, MCIDAS | [3,4] | CCNO: cytoplasmic centriole assembly and docking factor; MCIDAS: nuclear regulator of CCNO and FOXJ1 | (✘) | Usually misinterpreted as secondary ciliary aplasia; reduced numbers of MMC; basal bodies and rootlets are mislocalized | (✘) | Usually misinterpreted as secondary ciliary aplasia; MCIDAS: lack of any axonemal components CCNO: Rootletin mislocalization, CCNO deficiency |
| OFD1, RPGR | [61,62] | Functions related to non-motile cilia; role in motile cilia unknown | ✘ | Normal/unspecific | ✘ | |