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)LocusSitus abnormalitiesNeonatal respiratory distressTEMnNO ppb mean (range)
DNAAF3 (n=2)19q1301ODA+IDA46 (32–60)
DNAH11 (n=9)7p15–2113Normal41.8 (10–79)
DNAI1 (n=4)9p21–p1311Normal/short ODA34.5 (20–70)
DNAI2 (n=3)17q25.112Normal/orientation/ODA+ IDA41.3 (30–47)
DYX1C1 (DNAAF4) (n=1)15q2110Short ODA+IDA55
HYDIN (n=3)16q2201Normal59.6 (19–90)
LRRC50 (DNAAF1) (n=2)16q2422ODA+IDA65
LRRC6 (n=6)8q2442ODA+IDA81.9 (12–328)
MCIDAS (n=2)5q1100Absence of ciliary cells57 (54–60)
RSPH4A (n=1)6q2200Normal38
RSPH9 (n=1)6p2101Normal48

ODA: outer dynein arm; IDA: inner dynein arm.