

Clinical significance of molecular genetic approaches based on NGS technologies in a sample of patients with primary ciliary dyskinesia
https://doi.org/10.25557/2073-7998.2022.10.38-42
Abstract
About the Authors
G. M. RadzhabovaRussian Federation
A. V. Smirnova
Russian Federation
A. A. Knyazeva
Russian Federation
A. A. Novak
Russian Federation
Yu. L. Mizernitsky
Russian Federation
N. V. Shcherbakova
Russian Federation
D. S. Tsibulskaya
Russian Federation
I. S. Povolotskaya
Russian Federation
References
1. Hildebrandt F., Benzing T., Ciliopathies. N Engl J Med. 2011;364(16):1533- 1543. doi: 10.1056/NEJMra1010172.
2. Богорад А.Е., Дьякова С.Э., Мизерницкий Ю.Л. Первичная цилиарная дискинезия: современные подходы к диагностике и терапии. Российский вестник перинатологии и педиатрии. 2019;64:(5):123-133. doi: 10.21508/1027-4065-2019-64-5-123-133.
3. Новак А.А., Мизерницкий Ю.Л. Первичная цилиарная дискинезия: состояние проблемы и перспективы. Медицинский совет. 2021;(1):276-285. doi: 10.21518/2079-701X-2021-1-276-285.
4. Ferkol T., Leigh M. Primary ciliary dyskinesia and newborn respiratory distress. Semin Perinatol. 2006;30(6):335-340. doi: 10.1053/j.semperi. 2005.11.001.
5. Mullowney T., Manson D., Kim R., Stephens D., Shah V., Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics. 2014;134(6):1160-1166. doi: 10.1542/peds.2014-0808.
6. Lucas J.S., Barbato A., Collins S.A., Goutaki M., Behan L., Caudri D. et al. European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49(1):1601090. doi: 10.1183/13993003.01090-2016.
7. Sturgess J.M., Turner J.A. Ultrastructural pathology of cilia in the immotile cilia syndrome. Perspect Pediatr Pathol. 1984;8(2):133-161.
8. O’Callaghan C., Rutman A., Williams G.M., Hirst R.A. Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required. Eur Respir J. 2011;38(3):603-607. doi: 10.1183/09031936.00108410.
9. Fliegauf M., Olbrich H., Horvath J., Wildhaber J.H., Zariwala M., Kennedy M. et al. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med. 2005;171(12):1343-1949. doi: 10.1164/rccm.200411-1583OC.
10. Brennan S.K., Ferkol T.W., Davis S.D. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.Int J Mol Sci. 2021 Jul 31;22(15):8272.
11. Leigh M.W. Hazucha M.J. Chawla K.K. Baker B.R. Shapiro A.J. Brown D.E. et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013; 10: 574-581
12. Wheway G., Thomas N.S., Carroll M., et al. Whole genome sequencing in the diagnosis of primary ciliary dyskinesia. BMC Med Genomics. 2021 Sep 23;14(1):234.
13. Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., McGuire A.L., Nussbaum R.L., O’Daniel J.M., Ormond K.E., Rehm H.L., Watson M.S., Williams M.S., Biesecker L.G.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73.
Review
For citations:
Radzhabova G.M., Smirnova A.V., Knyazeva A.A., Novak A.A., Mizernitsky Yu.L., Shcherbakova N.V., Tsibulskaya D.S., Povolotskaya I.S. Clinical significance of molecular genetic approaches based on NGS technologies in a sample of patients with primary ciliary dyskinesia. Medical Genetics. 2022;21(10):38-42. (In Russ.) https://doi.org/10.25557/2073-7998.2022.10.38-42