Table 2.
Clinical, demographic, and ciliary features of 20 unrelated families carrying DNAH11 mutations
| PCD patient # | Family # | 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 | dys-/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 | dys-/hyperkinetic | - | yes | yes | no | yes | ||
| PCD157 | UNC21 | F | 12 | Caucasian | 2.1 | SI | dys-/hyperkinetic | - | yes | yes | yes | yes |
| PCD761 | UNC126 | F | 30 | Caucasian | 24.5 | SI | dys-/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 | dys-/hyperkinetic | 7.9 | yes | yes | yes | yes | ||
| OP98-II:1 | OP98 | M | 20 | Caucasian | na | SI | dys-/hyperkinetic | - | no | yes | yes | yes |
| OP98-II:2† | M | 15 | na | SS | dys-/hyperkinetic | - | na | yes | yes | yes | ||
| OP406-II:1 | OP406 | M | 1 | Caucasian | na | SI | dys-/hyperkinetic | - | na | na | na | na |
| OP406- II:2† | F | 7 | na | SS | dys-/hyperkinetic | - | yes | na | na | yes | ||
| PCD565 | UNC90 | M | 7 | Caucasian | 23.5 | SI | dys-/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 | dys-/hyperkinetic | 13.7 | no | no | yes | yes |
| OP235-II:1† | OP235 | F | 24 | Caucasian | na | SS | dys-/hyperkinetic | - | no | yes | yes | yes |
| OP235-II:2 | F | 21 | na | SI | dys-/hyperkinetic | - | yes | yes | yes | yes | ||
| OP41-II:1 | OP41 | M | 13 | Caucasian | na | SI | dys-/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 | dys-/hyperkinetic | 7.1 | no | yes | yes | yes |
| PCD1033 | UNC179 | F | 10 | Caucasian | 34.8 | SA | dys-/hyperkinetic | 10.5 | yes | yes | no | yes |
| PCD1174 | UNC256 | F | 35 | Caucasian | 32.1 | SS | dys-/hyperkinetic | 6.9 | yes | yes | yes | yes |
| PCD974 | UNC162 | F | 12 | Caucasian | 40 | SS | dys-/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 1/3 of the ciliary shaft.
Abbreviations:
SI = Situs inversus, SA = Situs ambiguus, SS = Situs solitus, M = Male, F = Female, na = Not avaliable, nNO = Nasal nitric oxide, Bxsis = Bronchiectasis, Neo RDS = Neonatal respiratory distress in full term birth CBF= ciliary beat frequency, Hz= Hertz, dys = dyskinetic.