Table 1

Patients’ characteristics

2 DAODAIDA/MTDCCnEMTotal
n=15n=15n=15n=15n=15n=75
Male/Female8/79/610/59/67/843/32
Age (years)14 (0–44)30 (4–62)15 (0–50)29 (7–53)27 (1–55)25 (0–62)
Clinical features
 Laterality defect7 (47%)6 (40%)4 (27%)0 (0%)11 (73%)28 (37%)
 Neonatal respiratory distress8 (53%)3 (20%)11 (73%)5 (33%)5 (33%)32 (43%)
 Chronic bronchitis and rhinosinusitis15 (100%)15 (100%)15 (100%)15 (100%)15 (100%)75 (100%)
 Bronchiectasis12 (80%)11 (73%)9 (60%)14 (93%)11 (73%)57 (76%)
 Adult male infertility*3/33/63/63/71/513/27
Available nasal NO9 (60%)13 (87%)10 (67%)11 (73%)10 (67%)50 (67%)
 Nasal NO (nL/min)11 (1–93)10 (0–60)13 (0–60)17 (6–194)22 (7–121)12 (0–194)
Abnormal cilia by TEM (%)100 (as inclusion criteria)35 (20–58)4 (0–9)100 (0–100)
Patients with identified causal mutations†15/15 (100%)14/14 (100%)13/13 (100%)13/15 (87%)13/15 (87%)68/72 (94%)
Genes (n) DNAAF1 (3) DNAI1 (8) CCDC39 (10) RSPH1 (6) DNAH11 (13)
ZMYND10 (3) DNAH5 (6) CCDC40 (3) RSPH9 (4)
LRRC6 (2) DNAJB13 (2)
PIH1D3 (2) HYDIN (1)
CCDC114 (2)
DNAAF2 (1)
DNAAF3 (1)
DYX1C1 (1)
  • Data are expressed as n (%) or median (range).

  • *Among males 18 years and older. Additionally, four women showed hypofertility in 2 DA (n=1), ODA (n=1) and nEM (n=2) groups.

  • †Among patients with available molecular analysis.

  • CC, central complex defect; 2 DA, combined outer/innerdyne in arms defect; IDA/MTD, inner dynein arm defect with microtubular disorganisation; nEM, normal ultrastructure; NO, nitric oxide; ODA, outer dynein arm defect; TEM, transmission electron microscopy.