Table 1.

Clinical, Diagnostic, and Genetic Findings in DNAH9 Mutant Individuals

	OP-2905 II1	OP-1226 II1	MS-SI46 II1	AM II1	MD II1
Origin	Germany	Germany	Turkey	Serbia	USA
Consanguinity	no	no	yes	no	no
Respiratory phenotype	mild	none	mild	N/A	mild
nNO	76 nL/min (230 ppb)	106 nL/min (321 ppb) (2011) 67 nL/min (202 ppb) (2015)	N/A	N/A	N/A
HVSM	reduced distal bending	reduced distal bending	N/A	N/A	N/A
TEM	partial absence of ODAs	N/A	N/A	N/A	N/A
IF	absence of DNAH9 and distal absence of DNAI1, DNAI2, DNAH5; DNAH11 normal	absence of DNAH9 and distal absence of DNAI1, DNAI2, DNAH5; DNAH11 normal	absence of DNAH9 and distal absence of DNAI1, DNAI2, DNAH5	N/A	N/A
Laterality defect	situs inversus totalis	situs inversus totalis	situs inversus totalis	situs ambiguous with complex heart defect (left atrial isomerism, atrioventricular canal defect, interrupted vena cava inferior, anomalous pulmonary vein connection, persistent ductus arteriosus)	heterotaxy with situs inversus, interrupted inferior vena cava with azygous continuation, right aortic arch with mirror image head and neck vessel branching, liver and gall bladder on left, multiple splenules on right side
Other features	septo-optic dysplasia	none	none	died at 8 days of age due to cardiac defect	hydrocephalus and a ventriculoperitoneal shunt after group B streptococcal sepsis as infant
DNAH9 alleles	c.1970+4A>G + c.3354−1G>T	c.8251C>T (p.Gln2751∗) (homozygous)	c.10127dupT (p.Leu3376Phefs∗57) (homozygous)	c.308dupT (p.Leu104Profs∗45) + c.11666C>G (p.Ser3889∗)	c.1997G>A (p.Trp666∗) + c.5020G>A (p.Gly1674Arg)
Sequencing technology used for primary variant identification	NGS targeted gene panel (see Table S1 for details)	Sanger sequencing	WES (SureSelect V6 whole exome kit)	NGS Illumina Trusight One targeting 12 Mb panel	clinical WES (Agilent SureSelect XT Clinical Research Exome kit)

Abbreviations: N/A, not available; NGS, next generation sequencing; ODA, outer dynein arm; WES, whole-exome sequencing.