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DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
Open accessAbstract
RATIONALE: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components. METHODS: We screened 109 white PCD families originating from Europe and North America for presence of DNAH5 mutations by haplotype analyses and/or sequencing. RESULTS: Haplotype analyses excluded linkage in 26 families. In 30 PCD families, we identified 33 novel (12 nonsense, 8 frameshift, 5 splicing, and 8 missense mutations) and two known DNAH5 mutations. We observed clustering of mutations within five exons harboring 27 mutant alleles (52%) of the 52 detected mutant alleles. Interestingly, 6 (32%) of 19 PCD families with DNAH5 mutations from North America carry the novel founder mutation 10815delT. Electron microscopic analyses in 22 patients with PCD with mutations invariably detected outer dynein arm ciliary defects. High-resolution immunofluorescence imaging of respiratory epithelial cells from eight patients with DNAH5 mutations showed mislocalization of mutant DNAH5 and accumulation at the microtubule organizing centers. Mutant DNAH5 was absent throughout the ciliary axoneme in seven patients and remained detectable in the proximal ciliary axoneme in one patient carrying compound heterozygous splicing mutations at the 3'-end (IVS75-2A>T, IVS76+5G>A). In a preselected subpopulation with documented outer dynein arm defects (n = 47), DNAH5 mutations were identified in 53% of patients. CONCLUSIONS: DNAH5 is frequently mutated in patients with PCD exhibiting outer dynein arm defects and mutations cluster in five exons.
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Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
Nonaka, S., Tanaka, Y., Okada, Y., Takeda, S., Harada, A., Kanai, Y., Kido, M., & Hirokawa, N. (1998) · Cell · doi:10.1016/s0092-8674(00)81705-5 · Cited by 1,617
A Human Syndrome Caused by Immotile Cilia
Afzelius, B. A. (1976) · Science · doi:10.1126/science.1084576 · Cited by 1,257
Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features
Noone, P. G., Leigh, M. W., Sannuti, A., Minnix, S. L., Carson, J. L., Hazucha, M., Zariwala, M. A., & Knowles, M. R. (2004) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200303-365oc · Cited by 843
Self-citationMutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
Olbrich, H., Häffner, K., Kispert, A., Völkel, A., Volz, A., Sasmaz, G., Reinhardt, R., Hennig, S., Lehrach, H., Konietzko, N., et al. (2002) · Nature Genetics · doi:10.1038/ng817 · Cited by 553
Self-citationWilschanski, M., Yahav, Y., Yaacov, Y., Blau, H., Bentur, L., Rivlin, J., Aviram, M., Bdolah-Abram, T., Bebok, Z., Shushi, L., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022170 · Cited by 503
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
Howard, M., Frizzell, R. A., & Bedwell, D. M. (1996) · Nature Medicine · doi:10.1038/nm0496-467 · Cited by 493
Pennarun, G., Escudier, E., Chapelin, C., Bridoux, A.-M., Cacheux, V., Roger, G., Clément, A., Goossens, M., Amselem, S., & Duriez, B. (1999) · The American Journal of Human Genetics · doi:10.1086/302683 · Cited by 402
Misreading of RNA Codewords Induced by Aminoglycoside Antibiotics
DAVIES, J., GORINI, L., & DAVIS, B. D. (1965) · Molecular Pharmacology · doi:10.1016/s0026-895x(25)14722-6 · Cited by 398
Primary ciliary dyskinesia: diagnosis and standards of care
Bush, A., Cole, P., Hariri, M., Mackay, I., Phillips, G., O'Callaghan, C., Wilson, R., & Warner, J. (1998) · European Respiratory Journal · doi:10.1183/09031936.98.12040982 · Cited by 388
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Fliegauf, M., Benzing, T., & Omran, H. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2278 · Cited by 1,257
Self-citationEuropean Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Lucas, J. S., Barbato, A., Collins, S. A., Goutaki, M., Behan, L., Caudri, D., Dell, S., Eber, E., Escudier, E., Hirst, R. A., et al. (2017) · European Respiratory Journal · doi:10.1183/13993003.01090-2016 · Cited by 698
Self-citationPierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Using high-resolution variant frequencies to empower clinical genome interpretation
Whiffin, N., Minikel, E., Walsh, R., O’Donnell-Luria, A. H., Karczewski, K., Ing, A. Y., Barton, P. J. R., Funke, B., Cook, S. A., MacArthur, D., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.26 · Cited by 441
Wallmeier, J., Nielsen, K. G., Kuehni, C. E., Lucas, J. S., Leigh, M. W., Zariwala, M. A., & Omran, H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0209-6 · Cited by 403
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Metadata
- Authors
- Hornef, N., Olbrich, H., Horvath, J., Zariwala, M. A., Fliegauf, M., Loges, N. T., Wildhaber, J., Noone, P. G., Kennedy, M., Antonarakis, S. E., Blouin, J.-L., Bartoloni, L., Nüsslein, T., Ahrens, P., Griese, M., Kuhl, H., Sudbrak, R., Knowles, M. R., Reinhardt, R., & Omran, H.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-07-15
- Volume
- 174
- Issue
- 2
- Pages
- 120-126
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W2104879907
- Cited by
- 353
- References
- 30
- FWCI
- 14.76
- Type
- journal article
- Language
- en
- Open access
- green
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- Hornef, N., Olbrich, H., Horvath, J., Zariwala, M. A., Fliegauf, M., Loges, N. T., Wildhaber, J., Noone, P. G., Kennedy, M., Antonarakis, S. E., Blouin, J.-L., Bartoloni, L., Nüsslein, T., Ahrens, P., Griese, M., Kuhl, H., Sudbrak, R., Knowles, M. R., Reinhardt, R., & Omran, H. (2006). DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/rccm.200601-084oc
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