TableĀ 1

Genes in which mutations cause primary ciliary dyskinesia, with corresponding cilia structural defects

GeneFunction of encoded proteinCilia ultrastructure in patients
DNAH5, DNAI1, DNAI2, DNAL1, NME8Outer dynein arm subunitODA
CCDC114, ARMC4Outer dynein arm targeting/docking complex subunitODA
DNAAF1, DNAAF2,DNAAF3,HEATR2, LRRC6, ZMYND10, DYX1C1, SPAG1Cytoplasmic dynein assembly factorIDA+ODA
CCDC103, C21ORF59Cytoplasm/cilia dynein assembly factorIDA+ODA
RSPH1, RSPH4A, RSPH9Radial spoke head subunitCP
CCDC39, CCDC40Nexin link (dynein regulatory complex) factorIDA+MT disarrangement
CCDC164, CCDC65Nexin link (dynein regulatory complex) subunitNormal (nexin links absent)
HYDINCentral microtubule pair subunitNormal (CP subunit C2b absent)
DNAH11Outer dynein arm subunitNormal
OFD1, RPGRNon-motile cilia-related functionsMixed
  • CP, central microtubule pair; IDA, inner dynein arm; MT, microtubule; ODA, outer dynein arm.