TABLE 2.
Primary ciliary dyskinesia causing genes in our cohort and the related prevalence of situs abnormalities and neonatal distress, and associated findings by transmission electron microscopy (TEM) and nasal nitric oxide (nNO) measurements
| Gene (n=34) | Locus | Situs abnormalities | Neonatal respiratory distress | TEM | nNO ppb mean (range) |
| DNAAF3 (n=2) | 19q13 | 0 | 1 | ODA+IDA | 46 (32–60) |
| DNAH11 (n=9) | 7p15–21 | 1 | 3 | Normal | 41.8 (10–79) |
| DNAI1 (n=4) | 9p21–p13 | 1 | 1 | Normal/short ODA | 34.5 (20–70) |
| DNAI2 (n=3) | 17q25.1 | 1 | 2 | Normal/orientation/ODA+ IDA | 41.3 (30–47) |
| DYX1C1 (DNAAF4) (n=1) | 15q21 | 1 | 0 | Short ODA+IDA | 55 |
| HYDIN (n=3) | 16q22 | 0 | 1 | Normal | 59.6 (19–90) |
| LRRC50 (DNAAF1) (n=2) | 16q24 | 2 | 2 | ODA+IDA | 65 |
| LRRC6 (n=6) | 8q24 | 4 | 2 | ODA+IDA | 81.9 (12–328) |
| MCIDAS (n=2) | 5q11 | 0 | 0 | Absence of ciliary cells | 57 (54–60) |
| RSPH4A (n=1) | 6q22 | 0 | 0 | Normal | 38 |
| RSPH9 (n=1) | 6p21 | 0 | 1 | Normal | 48 |
ODA: outer dynein arm; IDA: inner dynein arm.