TABLE 1.
Phenotypic characteristics of Inuit patients with PCD from homozygous DNAH11 variants at c.4095+2C>A.
| Case | Age (at last assessment) | Neonatal Respiratory Distress | Situs | Chronic otitis | Chronic wet cough | Chronic rhinosinusitis | Chronic Atelectasisa | Bronchiectasisb | FEV1% predicted | TEM | nNO (nL/min) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A1 | 10 years | ✓ | SIT | ✓ | ✓ | ✓ | ✓ | ✓ | 73% | Normal | 5.6 |
| A2 | 10 years | ✓ | SS | ✓ | ✓ | ✓ | ✓ | Not seen on CT at 4 years of age | 114% | Normal | ND |
| A3 | 4 years | ✓ | SA | No | ✓ | ✓ | ✓ | No CT | ND | Normal | ND |
| 4 | 13 years | ✓ | SIT | ✓ | ✓ | +/− | ✓ | ✓ | 71% | Normal | ND |
| 5 | 11 years | No | SS | ✓ | No | No | No | No CT | ND | ND | ND |
| D6 | 56 years | ✓ | SIT | ✓ | ✓ | ✓ | ✓ | ✓ | 77% | Normal | 23 |
| D7 | 59 years | Unknown | SS | ✓ | ✓ | ✓ | ✓ | ✓ | 107% | ND | 8.9 |
Note: Summary of typical PCD phenotypic findings among patients.
Abbreviations: FEV1%, percent predicted of forced expiratory volume in 1 s; ND, not done; nNO, nasal nitric oxide; SA, situs ambiguus; SIT, situs inversus totalis; SS, situs solitus; TEM, transmission electron microscopy.
a
On chest radiography or chest computed tomography.
b
On chest computed tomography.