Comparison of mean values of clinical tests obtained from CCDC103 p.His154Pro cases versus a comparator group
| Clinical features | N | CCDC103 p.His154Pro | N | Comparator group |
| Age (mean SD) | 16 | 11.8 (4.8) | 16 | 11.9 (8.8) |
| Gender (% male) | 16 | 67% | 16 | 63% |
| Nasal nitric oxide (nL/min) | 14 | 63 (63) | 9 | 12 (7)** |
| Ciliary beat frequency (Hz) | 16 | 7.5 (4.7) | 16 | 1.3 (3.6)** |
| % Cross sections with IDA absent on TEM | 13 | 45% (24) | 16 | 63% (30) |
| % Cross sections with ODA absent on TEM | 13 | 19% (12) | 16 | 89% (20)** |
| FEV1 z-score (median IQR) | 10 | −1.4 (−0.8, −2.1) | 13 | −1.8 (−1.5, −2.1) |
| Situs inversus | 16 | 81% | 16 | 56% |
**p<0.005.
IDA, inner dynein arms; ODA, outer dynein arms; TEM, transmission electron microscopy.
The CCDC103 p.His154Pro cases are described in table 1 and the comparator group are South Asian origin CCDC103 p.His154Pro-negative cases with a confirmed absent dynein arms defect and genetic results as described in the main text. We only show TEM data for patients in whom more than 100 cilia were counted. Data shown as the mean, with SD shown in brackets unless otherwise stated.