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)