Ciliary defect (EM) | PCD gene | Patients (n=85) | Men (n=49) | Women (n=36) | ||
Fertile (n=12) | Infertile (n=37) | Fertile (n=14) | Infertile (n=22) | |||
CC | DNAJB13 | 1 | 0 | 1 | 0 | 0 |
HYDIN | 6 | 1 | 1 | 0 | 4 | |
RSPH1 | 4 | 0 | 1 | 1 | 2 | |
RSPH3 | 2 | 0 | 1 | 0 | 1 | |
RSPH4A | 3 | 3 | 0 | 0 | 0 | |
RSPH9 | 2 | 0 | 0 | 1 | 1 | |
IDA/MTD | CCDC39 | 8 | 0 | 7 | 0 | 1 |
CCDC40 | 10 | 1 | 8 | 0 | 1 | |
GAS8 | 1 | 0 | 1 | 0 | 0 | |
ODA | DNAH5 | 7 | 3 | 1 | 2 | 1 |
DNAI1 | 5 | 0 | 3 | 2 | 0 | |
NME8 (TXNDC3) | 1 | 0 | 0 | 0 | 1 | |
2DAs | DYX1C1 | 2 | 0 | 2 | 0 | 0 |
DNAAF1 (LRRC50) | 4 | 0 | 1 | 0 | 3 | |
LRRC6 | 6 | 0 | 4 | 0 | 2 | |
RPGR | 1 | 1 | 0 | 0 | 0 | |
SPAG1 | 1 | 0 | 1 | 0 | 0 | |
ZMYND10 | 1 | 0 | 1 | 0 | 0 | |
nEM | DNAH11 | 17 | 3 | 4 | 7 | 3 |
Others | CCNO | 2 | 0 | 0 | 1 | 1 |
MCIDAS | 1 | 0 | 0 | 0 | 1 |
PCD: primary ciliary dyskinesia; CC: abnormal central complex; IDA/MTD: inner dynein arms with microtubular disorganisation; ODA: no outer dynein arms; 2DAs: no inner and outer dynein arms; nEM: no EM-detected defect.