TABLE 3 ] .
Diagnostic Testing of Participants With Classic PCD and SA
| ID | Age, y | nNO, nL/min | Situs | EM Defect | Biallelic Mutationa |
| PCD1 | 0.1b | 8.79c | SA + complex CVM | ODA + IDA | HEATR2 |
| PCD2 | 0.2b | 11.2c | SA + simple CVM | ODA + IDA | … |
| PCD3 | 1.8 | 16.1c | SA + complex CVM | ODA | … |
| PCD4 | 3.0 | 4.6c | SA + complex CVM | Indeterminate | DNAH5 |
| PCD5 | 4.7 | 6.1c | SA + simple CVM | ODA | … |
| PCD6 | 7.8 | 10.9c | SA without cardiac defect | Indeterminate | CCDC39 |
| PCD7 | 5.2 | 4.3 | SA + complex CVM | Inadequate sample | DNAH5 |
| PCD8 | 6.4 | Not done | SA without cardiac defect | ODA | DNAH5 |
| PCD9 | 7.3 | 6.8 | SA + simple CVM | IDA + CA, MTD | CCDC40 |
| PCD10 | 7.4 | 5.7 | SA + complex CVM | ODA | DNAH5 |
| PCD11 | 8.1 | 22.0 | SA without cardiac defect | ODA | … |
| PCD12 | 8.1 | 10.4 | SA + simple CVM | ODA + IDA | DYX1C1 |
| PCD13 | 8.5 | 9.6 | SA + simple CVM | IDA + CA, MTD | CCDC40 |
| PCD14 | 9.3 | 10.0 | SA without cardiac defect | ODA | … |
| PCD15 | 10.7 | 35.7 | SA + simple CVM | ODA | DNAH5 |
| PCD16 | 11.1 | 25.6 | SA without cardiac defect | ODA + IDA | … |
| PCD17 | 11.2 | 9.8 | SA without cardiac defect | IDA + CA, MTD | … |
| PCD18 | 11.4 | 10.2 | Isolated possible laterality defect | ODA + IDA | KTU |
| PCD19 | 11.5 | 13.2 | SA + complex CVM | ODA | DNAI1 |
| PCD20 | 12.4 | 25.5 | SA + complex CVM | Normal | DNAH11 |
| PCD21 | 12.9 | 8.9 | SA + complex CVM | Inadequate sample | DNAH5 |
| PCD22 | 13.4 | 20.7 | Isolated possible laterality defect | ODA + IDA defects | HEATR2 |
| PCD23 | 14.0 | 32.5 | Isolated possible laterality defect | ODA defect | DNAH5 |
| PCD24 | 15.6 | 35.8 | SA without cardiac defect | ODA defect | DNAH5 |
| PCD25 | 16.0 | 11.9 | Isolated possible laterality defect | IDA + CA, MTD | … |
| PCD26 | 16.9 | 16.5 | SA without cardiac defect | ODA | … |
| PCD27 | 18.6 | 26.4 | Isolated possible laterality defect | ODA | DNAH5 |
| PCD28 | 20.5 | 29.9 | SA + simple CVM | ODA | … |
| PCD29 | 22.7 | 5.5 | Isolated possible laterality defect | IDA + CA, MTD | … |
| PCD30 | 24.6 | 35.7 | Isolated possible laterality defect | ODA | DNAH5 |
| PCD31 | 30.7 | 5.8 | SA without cardiac defect | ODA | … |
| PCD32 | 31.7 | 13.1 | SA without cardiac defect | ODA+IDA | LRRC6 |
| PCD33 | 34.7 | 47.6 | SA without cardiac defect | ODA | DNAH5 |
| PCD34 | 35.8 | 43.7 | SA without cardiac defect | ODA | … |
| PCD35 | 45.8 | 12.1 | SA without cardiac defect | ODA | DNAH5 |
| PCD36 | 55.2 | 5.7 | Isolated possible laterality defect | ODA | DNAH5 |
| PCD37 | 58.0 | 7.2 | SA without cardiac defect | ODA + IDA | … |
CA = central apparatus; IDA = inner dynein arm; ODA = outer dynein arm; MTD = microtubule disorganization. See Table 1 and 2 legends for expansion of other abbreviations.
a
Ellipses denote no genetic mutations isolated. We tested DNAI1 and DNAH5 for patients with ODA defects; DNAAF2, DYX1C1, HEATR2, and LRRC6 for patients with ODA + IDA defects; CCDC39 and CCDC40 for patients with IDA + CA and MTD defects; DNAH11 for patients with normal ciliary ultrastructure; and all of these genes for patients in whom ciliary ultrastructure was not available.
b
Participants aged < 1 y not included in data analysis.
c
nNO values obtained with the tidal breathing technique.