Table 2.
Mutations in Genes that Cause Human Primary Ciliary Dyskinesia34
| Gene | Chromosomal Location | Axonemal Component | Ciliary Ultrastructure in Subjects with Biallelic Mutations | Laterality Defects Present | Gene MIM# |
|---|---|---|---|---|---|
| DNAH5 | 5p15.2 | ODA dynein HC | ODA defect | yes | 603335 |
| DNAI1 | 9p21-p13 | ODA dynein IC | ODA defect | yes | 604366 |
| DNAI2 | 17q25 | ODA dynein IC | ODA defect | yes | 605483 |
| DNAL1 | 14q24.3 | ODA dynein LC | ODA defect | yes | 610062 |
| CCDC114 | 19q13.32 | ODA DC | ODA defect | yes | 615038 |
| CCDC151 | 19p13.2 | ODA transport component | ODA defect | yes | 615956 |
| ARMC4 | 10p12.1-p11.23 | ODA transport component | ODA defect | yes | 615408 |
| TXNDC3 (NME8) | 7p14-p13 | ODA dynein IC/LC | Partial ODA defect (66% cilia defective) | yes | 607421 |
| DNAAF1 (LRRC50) | 16q24.1 | Cytoplasmic DA preassembly factor | ODA+IDA defect | yes | 613190 |
| DNAAF2 (KTU) | 14q21.3 | Cytoplasmic DA preassembly factor | ODA+IDA defect | yes | 612517 |
| DNAAF3 (C19orf51) | 19q13.42 | Cytoplasmic DA preassembly factor | ODA+IDA defect | yes | 614566 |
| CCDC103 | 17q21.31 | Cytoplasmic DA attachment factor | ODA+IDA defect | yes | 614677 |
| HEATR2 | 7p22.3 | Cytoplasmic DA preassembly or transport | ODA+IDA defect | yes | 614864 |
| LRRC6 | 8q24 | Cytoplasmic DA preassembly or transport | ODA+IDA defect | yes | 614930 |
| C21orf59 | 21q22.1 | Cytoplasmic DA assembly or adaptor for transport | ODA+IDA defect | yes | 615494 |
| SPAG1 | 8q22 | Cytoplasmic DA preassembly or transport | ODA+IDA defect | yes | 603395 |
| DYX1C1 | 15q21.3 | Cytoplasmic DA preassembly factor | ODA+IDA defect | yes | 608706 |
| ZMYND10 | 3p21.3 | Cytoplasmic DA assembly | ODA+IDA defect | yes | 607070 |
| CCDC39 | 3q26.33 | N-DRC | IDA defect + Axonemal disorganization | yes | 613798 |
| CCDC40 | 17q25.3 | N-DRC | IDA defect + Axonemal disorganization | yes | 613799 |
| CCDC164 (DRC1) | 2p23.3 | N-DRC | Nexin link missing; axonemal disorganization in small proportion of cilia | no | 615288 |
| RSPH4A | 6q22.1 | RS component | Mostly normal, CA defects in small proportion of cilia | no | 612647 |
| RSPH9 | 6p21.1 | RS component | Mostly normal, CA defects in small proportion of cilia | no | 612648 |
| RSPH1 | 21q22.3 | RS component | Mostly normal, CA defects in small proportion of cilia | no | 609314 |
| HYDIN | 16q22.2 | CA component | Normal, very occasionally CA defects | no | 610812 |
| DNAH11 | 7p21 | ODA dynein HC | Normal | yes | 603339 |
| CCDC65 (DRC2) | 12q13.12 | N-DRC | Normal | no | 611088 |
| MCIDAS | 5q11.2 | multiciliated cell differentiation | Oligocilia | no | 614086 |
| CCNO | 5q11.2 | multiciliated cell differentiation | Oligocilia | no | 607752 |
| DNAH8 | 6p21.2 | ODA dynein HC | Unknown | Unknown | 60337 |
| RPGR | Xp21.1 | Unknown | Mixed | no | 312610 |
| OFD1 | Xq22 | Unknown | Unknown | no | 300170 |
DA: dynein arm; ODA: outer dynein arm; IDA: inner dynein arm; CA: central apparatus; RS: radial spoke; HC: heavy chain; LC: light chain; IC: intermediate chain; DC: docking complex; N-DRC: nexin-dynein regulatory complex.