Table 3.
Recognized Gene Abnormalities Associated with Primary Ciliary Dyskinesia
| Gene identified | Chromosome | EM findings | Phenotypes |
|---|---|---|---|
| DNAH5 | 5 | ODA | PCD +/− SI |
| DNAI1 | 9 | ODA | PCD +/− SI |
| DNAH11 | 7 | normal | PCD +/− SI |
| TNXDC3 | 7 | ODA | KS |
| DNAI2 | 17 | ODA | PCD +/− SI |
| KTU (C14orf104) | 14 | ODA+IDA | PCD +/− SI |
| RSPH4A | 6 | CP | PCD |
| RSPH9 | 6 | CP | PCD |
Modified from Barbato et al.19
DNAH5, dynein, axonemal, heavy chain 5; DNAI1, dynein, axonemal, intermediate chain 1; DNAH11, dynein, axonemal, heavy chain 11; TNXDC3, thioredoxin domain containing 3; DNAI2, dynein, axonemal, intermediate chain 2; KTU, chromosome 14 open reading frame 104; RSPH4A, radial spoke head 4 homologue A; RSPH9, radial spoke head 9 homologue; ODA, outer dynein arms; IDA, inner dynein arms; CP, central pair; SI, situs inversus; KS, Kartagener's syndrome.