Table 1

A comprehensive list of primary ciliary dyskinesia (PCD)-related genes

GeneProtein localisation/functionUltrastructural defect in PCDTypical functional defect in PCD*Reference
DNAI1ODAODA defectImmotile cilia53, 62–65
DNAH5ODAODA defectImmotile cilia54, 42 43
DNAI2ODAODA defectImmotile cilia24
TXNDC3 (NME8)ODAODA defectImmotile cilia66
DNAL1ODAODA defectImpaired motility67
CCDC114ODA docking complexODA defectImmotile cilia68, 69
ARMC4ODA docking complexODA defectImmotile cilia70 71
CCDC151ODA targeting and dockingODA defectImmotile cilia72, 73
CCDC103Cytoplasmic, ODA assemblingODA defectImmotile cilia74
KTU (DNAAF2)Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia75
LRRC50 (DNAAF1)Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia55, 56
DNAAF3Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia76
DYX1C1Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia77
HEATR2Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia78
LRRC6Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia79, 80
ZMYND10Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia7, 81
SPAG1Cytoplasmic, DA assemblingODA+IDA defectImmotile cilia82
C21orf59Cytoplasmic, DA assemblingODA+IDA defect83
CCDC39N-DRCMT disorganisation and IDA defectHyperkinetic, stiff cilia57, 84
CCDC40N-DRCMT disorganisation and IDA defectHyperkinetic, stiff cilia84, 85
CCDC164N-DRCN-DRC defect; not visibleReduced amplitude86
CCDC65N-DRCN-DRC defectImpaired motility83
RSPH4ARSMT disorganisation (CP-RS defect); not visibleCircular beat or stiff cilia87–89
RSPH9RSMT disorganisation (CP-RS defect)Circular beat87–89
RSPH1RSMT disorganisation (CP-RS defect)Different beating patterns89–91
HYDINCPCP projection defect; not visibleReduced amplitude, discoordination92
DNAH11ODANormal ultrastructureHyperkinetic cilia, reduced amplitude40, 41
RPGRCytoplasmicSyndromic PCD with retinitis pigmentosa58, 59
OFD1CytoplasmicSyndromic PCD with orofacialdigital syndrome60
CCNOApical cytoplasmReduction of multiple motile cilia44
  • *For more details on the ciliary movement impairment, see ref. 61

  • BF, cilia beat frequency; CP, central pair; DA, dynein arms; IDA, inner dynein arm; MT, microtubule; N-DRC, nexin-dynein regulatory complex; ODA, outer dynein arm; RS, radial spoke.