Table 2.
Respiratory Phenotypic Features of Individuals with Identified DNAH17 Mutations
| Individuals | Airway disease | SI | Cilia TEM | Other Explorations |
|---|---|---|---|---|
| 18GM00285 | no | no | NA | NA |
| 18GM01974 | no | no | NA | normal thoracic/ENT TDM, normal mucociliary clearance |
| 18GM01913 | no | no | normal (ODA present) | normal thoracic/ENT TDM, normal mucociliary clearance |
| 18GM01932 | no | no | normal (ODA present) | normal ciliary beating, normal thoracic/ENT TDM, normal mucociliary clearance |
| 18GM01926 | no | no | NA | NA |
Abbreviations are as follows: SI = situs inversus; TEM = transmission electronic microscopy; NA = not available; ENT: ears, nose, and throat; and TDM: tomodensitometry.
Individuals 18GM00285: II-1 from family 1; 18GM01913: II-3 from family 2; 18GM01974: II-4 from family 2; 18GM01932: II-4 from family 3; 18GM01926: II-1 from family 4.