Table 2.

The relationship between specific genes, ultrastructural defects, other diagnostic measures, and clinical features in primary ciliary dyskinesia.

Ultrastructure	Gene	nNO	Motility	Respiratory Symptoms	Laterality Defects	Subfertility
Outer dynein arm defect	DNAH5 [21,49,50,51]	Low	Immotile or stiff	Yes	Yes	Yes
	DNAI1 [21,28,52]	Low	Reduced, minimal movements	Yes	Yes	Yes
	DNAI2 [53]	NR	Reduced, minimal movements	Yes	Yes	Yes
	DNAL1 [54,55]	Low	Immotile or weak	Yes	Yes	NR
	NME8 [21,56]	NR	Normal	Yes	Yes	Yes
	CCDC114 [57,58]	Low	Immotile or flickering	Yes	Yes	NR
	CCDC151 [59]	NR	Immotile	Yes	Yes	NR
	ARMC4 [28,60,61]	Low	Flickering	Yes	Yes	NR
	TTC25 [62,63]	Low	Immotile or flickering	Yes	Yes	NR
	CCDC103a [64,65]	Low or normal	Immotile or normal	Yes	Yes	Yes
Outer and inner dynein arm defects	DNAAFI1 [21,66,67]	NR	Immotile	Yes	Yes	Yes
	DNAAF2 [68,69]	Low	Immotile	Yes	Yes	Yes
	DNAAF3 [70,71]	Low	Immotile	Yes	Yes	NR
	LRRC6 [21,68,72]	Low	Immotile	Yes	Yes	Yes
	HEATR2 [73,74]	Low	Immotile or minimal movement	Yes	Yes	Yes
	ZYMND10 [21,75]	Low	Immotile	Yes	Yes	Yes
	DYX1C1 [21,68,76]	Low	Immotile	Yes	Yes	Yes
	SPAG1 [21,77]	Low	Immotile	Yes	Yes	Yes
	PIH1D3 a [78]	Low	Immotile	Yes	Yes	Yes
	CFAP300 [68,79]	Low	Immotile	Yes	Yes	Yes
	CFAP298 [30]	Low	Immotile	Yes	Yes	NR
Inner dynein arm defect with axonemal disorganization
	CCDC39 [21,80,81]	Low	Immotile	Yes	Yes	Yes
	CCDC40 [21,80,82]	Low	Immotile or stiff	Yes	Yes	Yes
	TTC12 [83]	Low or Normal	Normal, immotile, or reduced beating angle	Yes	NR	Yes
Oligocilia
	CCNO [21,60,84]	Low	Hypokinetic	Yes	NR	Yes
	MCIDAS [21,85]	Low	Immotile	Yes	NR	Yes
	FOXJ1 [86]	Normal	Normal	Yes	Yes	Yes

Normal nNO is >77 nL/min; NR—Not reported in literature; Footnotes: ^a Mutation-specific.