Clinical, demographic and ciliary features of 20 unrelated families carrying DNAH11 mutations
| PCD patient no. | Family no. | Sex | Age in yrs | Ethnicity | nNO nl/min* | Situs status | Ciliary videomicroscopy wave form§ | CBF (Hz)¶ | Neo RDS | Otitis media | Bxsis | Sinusitis |
| Homozygous mutations | ||||||||||||
| PCD623 | UNC101 | F | 24 | Caucasian | 9.7 | SS | Dyskinetic/hyperkinetic | – | Yes | Yes | Yes | Yes |
| PCD627† | F | 26 | 24.1 | SS | – | – | Yes | Yes | No | Yes | ||
| PCD1022 | UNC177 | M | 4 | Caucasian | 12.5 | SS | – | – | Yes | Yes | No | Yes |
| PCD1023† | M | 7.5 | 12.6 | SI | – | – | Yes | Yes | No | Yes | ||
| OP20-II:1‡ | OP-20 | M | 12 | Turkish | na | SI | – | – | No | Yes | Yes | No |
| Compound heterozygous mutations | ||||||||||||
| PCD106† | UNC14 | M | 29 | Caucasian | 14 | SS | – | – | No | Yes | No | Yes |
| PCD108 | M | 24 | 20 | SI | Dyskinetic/hyperkinetic | – | Yes | Yes | No | Yes | ||
| PCD157 | UNC21 | F | 12 | Caucasian | 2.1 | SI | Dyskinetic/hyperkinetic | – | Yes | Yes | Yes | Yes |
| PCD761 | UNC126 | F | 30 | Caucasian | 24.5 | SI | Dyskinetic/hyperkinetic | 15.2 | Yes | Yes | Yes | Yes |
| PCD918† | UNC147 | F | 10 | Asian | 19.4 | SS | – | – | Yes | Yes | Yes | Yes |
| PCD919 | M | 8 | 25.5 | SA | Dyskinetic/hyperkinetic | 7.9 | Yes | Yes | Yes | Yes | ||
| OP98-II:1 | OP98 | M | 20 | Caucasian | na | SI | Dyskinetic/hyperkinetic | – | No | Yes | Yes | Yes |
| OP98-II:2† | M | 15 | na | SS | Dyskinetic/hyperkinetic | – | na | Yes | Yes | Yes | ||
| OP406-II:1 | OP406 | M | 1 | Caucasian | na | SI | Dyskinetic/hyperkinetic | – | na | na | na | na |
| OP406- II:2† | F | 7 | na | SS | Dyskinetic/hyperkinetic | – | Yes | na | na | yes | ||
| PCD565 | UNC90 | M | 7 | Caucasian | 23.5 | SI | Dyskinetic/hyperkinetic | 10.2 | Yes | Yes | Yes | Yes |
| PCD1077 | UNC199 | F | 2 | Caucasian | 16.9 | SI | – | – | Yes | Yes | na | Yes |
| PCD1126 | UNC222 | F | 42 | Asian | 16.2 | SS | Dyskinetic/hyperkinetic | 13.7 | No | No | Yes | Yes |
| OP235-II:1† | OP235 | F | 24 | Caucasian | na | SS | Dyskinetic/hyperkinetic | – | No | Yes | Yes | Yes |
| OP235-II:2 | F | 21 | na | SI | Dyskinetic/hyperkinetic | – | Yes | Yes | Yes | Yes | ||
| OP41-II:1 | OP41 | M | 13 | Caucasian | na | SI | Dyskinetic/hyperkinetic | – | Yes | Yes | na | Yes |
| PCD812 | UNC128 | M | 8 | Caucasian | 9 | SI | – | – | Yes | Yes | No | Yes |
| Heterozygous mutations | ||||||||||||
| PCD998 | UNC174 | M | 29 | Caucasian | 70.4 | SS | Dyskinetic/hyperkinetic | 7.1 | No | Yes | Yes | Yes |
| PCD1033 | UNC179 | F | 10 | Caucasian | 34.8 | SA | Dyskinetic/hyperkinetic | 10.5 | Yes | Yes | No | Yes |
| PCD1174 | UNC256 | F | 35 | Caucasian | 32.1 | SS | Dyskinetic/hyperkinetic | 6.9 | Yes | Yes | Yes | Yes |
| PCD974 | UNC162 | F | 12 | Caucasian | 40 | SS | Dyskinetic/hyperkinetic | 14.0 | No | Yes | Yes | Yes |
| PCD545 | UNC-O | M | 25 | Lebanese | na | SS | – | – | No | No | Yes | Yes |
↵* Normal nNO levels were 376±124 nl/min (mean±SD), calculated from 27 healthy subjects.25
↵† Affected sibling (only tested for targeted mutation).
↵‡ Consanguineous family (parents of the patients were related).
↵§ Dyskinetic/hyperkinetic: dyskinetic means non-flexible beating pattern with reduced range of motion, especially at mid-shaft of the cilia; hyperkinetic means many fields with increased ciliary activity, particularly in the distal third of the ciliary shaft.
↵¶ 25°C; normal CBF 7.28±1.5 Hz (mean±SD), and ∼7.2±1.0 Hz.30 35
Bxsis, bronchiectasis; CBF, ciliary beat frequency; DNAH11, dynein axonemal heavy chain 11; F, female; M, male; na, not available; Neo RDS, neonatal respiratory distress in full-term birth; nNO, nasal nitric oxide; PCD, primary ciliary dyskinesia; SA, situs ambiguus; SI, situs inversus; SS, situs solitus.