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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  
  1. aInformative denotes: detectable in routine diagnostics.
  2. CP, central pair tubuli; DRC, dynein regulatory complex; IDA, dynein arm; IF, immunofluorescence microscopy; MMC, multiple motile cilia; NL, nexin link; ODA, outer dynein arm; RSPH, radial spoke head; TEM, transmission electron microscopy; TTD, tubular transposition defect (8 + 1 structure).