Table 1 PCD causative genes and their corresponding phenotypes
GeneChromosome locusProtein functionPCD phenotype
Transmission electron microscopyLaterality defects?
DNAH55pDynein arm component (heavy chain)ODA defectsYes
DNAI19p13Dynein arm component (intermediate chain)ODA defectsYes
DNAH117p21Dynein arm component (heavy chain)Normal structureYes
DNAI217q25Dynein arm component (intermediate chain)ODA defectsYes
DNAL114q24.3Dynein arm component (light chain)ODA defectsYes
CCDC11419q13.33Dynein arm microtubule-docking complex componentODA defectsYes
TXNDC3 (NME8)7p14-p13Possible dynein arm componentPartial ODA defects in some ciliaYes
DNAAF1 (LRRC50)16q24.1Cytoplasmic dynein arm assembly factorODA+IDA defectsYes
DNAAF2 (KTU)14q21.3Cytoplasmic dynein arm assembly factorODA+IDA defectsYes
DNAAF3 (PF22, C19ORF51)19q13Cytoplasmic dynein arm assembly factorODA+IDA defectsYes
CCDC10317q21.31Dynein arm anchoring proteinODA+IDA defectsYes
HEATR27p22.3HEAT repeat containing protein required for dynein arm assemblyODA+IDA defectsYes
LRRC68q24.22Protein involved in cilia and flagella assemblyODA+IDA defectsYes
HYDIN16q22Protein forming a part of C2b central pair subunitNormal, occasional CP defectsNo
RSPH4A6q22Component of radial spoke headMostly normal, CP defects in some ciliaNo
RSPH96p21Component of radial spoke headMostly normal, CP defects in some ciliaNo
CCDC393q26.33Protein essential for assembly of IDAs and the dynein regulatory complexIDA defects + axonemal disorganisationYes
CCDC4017q25.3Protein essential for assembly of IDAs and the dynein regulatory complexIDA defects + axonemal disorganisationYes
CCDC164 (DRC1)2p23.3Subunit of nexin–dynein regulatory complexNexin link missing
Axonemal disorganisation in some cilia
No
RPGRXp21.1Protein involved in microtubule organisation or regulation of transport in primary ciliaMixedNo
OFD1Xq22Contributes to the regulation of microtubule dynamicsNot applicableNo
ARMC410p12.1Protein required for a late step in proper targeting and anchoring of ODAsODA defectsYes
DYX1C1 (DNAAF4)15q21.3Cytoplasmic axonemal dynein assembly factorODA + IDA defectsYes
ZMYND103p21.31Regulation of transcription of dynein proteinsODA + IDA defectsYes
CCDC6512q13.12Subunit of the nexin–dynein regulatory complexIDA + nexin link defectsNo
RSPH121q22.3Component of the radial spoke headCentral microtubule complex and radial spoke defectsNo
SPAG18q22.2Cytoplasmic assembly of the dynein armsODA + IDA defectsYes
  • ODA: outer dynein arm; IDA: inner dynein arm; CP: central pair.