Table 1

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

Gene	Protein localisation/function	Ultrastructural defect in PCD	Typical functional defect in PCD*	Reference
DNAI1	ODA	ODA defect	Immotile cilia	53^, 62–65
DNAH5	ODA	ODA defect	Immotile cilia	54^, 42 43
DNAI2	ODA	ODA defect	Immotile cilia	24
TXNDC3 (NME8)	ODA	ODA defect	Immotile cilia	66
DNAL1	ODA	ODA defect	Impaired motility	67
CCDC114	ODA docking complex	ODA defect	Immotile cilia	68^, 69
ARMC4	ODA docking complex	ODA defect	Immotile cilia	70 71
CCDC151	ODA targeting and docking	ODA defect	Immotile cilia	72^, 73
CCDC103	Cytoplasmic, ODA assembling	ODA defect	Immotile cilia	74
KTU (DNAAF2)	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	75
LRRC50 (DNAAF1)	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	55^, 56
DNAAF3	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	76
DYX1C1	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	77
HEATR2	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	78
LRRC6	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	79^, 80
ZMYND10	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	7^, 81
SPAG1	Cytoplasmic, DA assembling	ODA+IDA defect	Immotile cilia	82
C21orf59	Cytoplasmic, DA assembling	ODA+IDA defect		83
CCDC39	N-DRC	MT disorganisation and IDA defect	Hyperkinetic, stiff cilia	57^, 84
CCDC40	N-DRC	MT disorganisation and IDA defect	Hyperkinetic, stiff cilia	84^, 85
CCDC164	N-DRC	N-DRC defect; not visible	Reduced amplitude	86
CCDC65	N-DRC	N-DRC defect	Impaired motility	83
RSPH4A	RS	MT disorganisation (CP-RS defect); not visible	Circular beat or stiff cilia	87–89
RSPH9	RS	MT disorganisation (CP-RS defect)	Circular beat	87–89
RSPH1	RS	MT disorganisation (CP-RS defect)	Different beating patterns	89–91
HYDIN	CP	CP projection defect; not visible	Reduced amplitude, discoordination	92
DNAH11	ODA	Normal ultrastructure	Hyperkinetic cilia, reduced amplitude	40^, 41
RPGR	Cytoplasmic	Syndromic PCD with retinitis pigmentosa		58^, 59
OFD1	Cytoplasmic	Syndromic PCD with orofacialdigital syndrome		60
CCNO	Apical cytoplasm	Reduction of multiple motile cilia		44

*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.