Table 1 Clinical, Diagnostic, and Genetic Findings in DNAH9 Mutant Individuals
LOGES, Niki T., et al. Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects. The American Journal of Human Genetics, 2018, 103. Jg., Nr. 6, S. 995-1008.
Publication: https://doi.org/10.1016/j.ajhg.2018.10.020
Description
Abbreviations: N/A, not available; NGS, next generation sequencing; ODA, outer dynein arm; WES, whole-exome sequencing.
Disclaimer
The publication Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects by NT. Loges, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. is published under an open access no derivatives license: : https://creativecommons.org/licenses/by-nc-nd/3.0/. Permits non-commercial use of the work as published, without adaptation or alteration provided the work is fully attributed.
Curation by the MFGA team
Pie chart of selected column
Table
| GENE | Patient | Origin | Consanguinity | RespiratoryPhenotype | Nno | Hvsm | Tem | If | LateralityDefect | OtherFeatures | Dnah9Alleles | SequencingTechnologyUsedForPrimaryVariantIdentification |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DNAH9 | OP-2905 II1 | Germany | no | mild | 76 nL/min (230 ppb) | reduced distal bending | partial absence of ODAs | absence of DNAH9 and distal absence of DNAI1 DNAI2 DNAH5 and DNAH11 normal | situs inversus totalis | septo-optic dysplasia | c.1970+4A>G + c.3354?1G>T | NGS targeted gene panel (see Table S1 for details) |
| DNAI1 | OP-1226 II1 | Germany | no | none | 106 nL/min (321 ppb) (2011) | 67 nL/min (202 ppb) (2015) | reduced distal bending | N/A | absence of DNAH9 and distal absence of DNAI1 DNAI2 DNAH5 and DNAH11 normal | situs inversus totalis | none | c.8251C>T (p.Gln2751?) (homozygous) |
| DNAI2 | MS-SI46 II1 | Turkey | yes | mild | N/A | N/A | N/A | absence of DNAH9 and distal absence of DNAI1 DNAI2 DNAH5 | situs inversus totalis | none | c.10127dupT (p.Leu3376Phefs?57) (homozygous) | WES (SureSelect V6 whole exome kit) |
| DNAH5 | AM II1 | Serbia | no | N/A | N/A | N/A | N/A | N/A | situs ambiguous with complex heart defect (left atrial isomerism/ atrioventricular canal defect/ interrupted vena cava inferior/ anomalous pulmonary vein connection/ persistent ductus arteriosus) | died at 8�days of age due to cardiac defect | c.308dupT (p.Leu104Profs?45) + c.11666C>G (p.Ser3889?) | NGS Illumina Trusight One targeting 12 Mb panel |
| DNAH11 | MD II1 | USA | no | mild | N/A | N/A | N/A | N/A | 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 | hydrocephalus and a ventriculoperitoneal shunt after group B streptococcal sepsis as infant | c.1997G>A (p.Trp666?) + c.5020G>A (p.Gly1674Arg) | clinical WES (Agilent SureSelect XT Clinical Research Exome kit) |