Table 1.
Clinical Features of Individuals Carrying DNAH9 Mutations
| Individual | 1.II.1 | 2.II.2 | 2.II.3 | 3.II.1 |
|---|---|---|---|---|
| DNAH9 variants (NM_001372.3) | c.12367G>A (p.Asp4123Asn) + c.12367G>A (p.Asp4123Asn) | c.8708−2A>G (p.Glu2904Aspfs∗53) + c.10193G>T (p.Arg3398Leu) | c.8708−2A>G (p.Glu2904Aspfs∗53) + c.10193G>T (p.Arg3398Leu) | c.5641A>G (p. Lys1881Glu) + c.5641A>G (p. Lys1881Glu) & c.8894G>A (p.Arg2965His) + c.8894G>A (p.Arg2965His) |
| Age at diagnosis | 8 years | 2 years | 9 years | 13 years |
| Neonatal distress | N | N | N | N |
| Rhinosinusitis | Y | Y | Y | Y |
| Wet cough | Y | Y with infection | Y with infection | Y |
| Otitis media | N | N | N | N |
| Bronchiectasis | N | N | N | N |
| Situs Inversus | Y | Y | Y | Y |
| Infertility | NA too young | NA too young | NA too young | Y |
| Lung function - forced expiratory volume in 1 s (FEV1%pred) | 49 | 108 | normal range | 92 |
| Nasal nitric oxide (normal > 77 nL/min) | 105 nL/min | 46 nL/min | 100 nL/min | 216 nL/min |
| Ciliary beat frequency (normal 8–15 Hz) | 8.4–10.1 Hz | 8–9.3 Hz | 8.4–8.6 Hz | 5.0–6.6 Hz |
| Co-morbidities | protein losing enteropathy, complex congenital heart disease | N | N | N |