Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia
https://doi.org/10.21508/1027-4065-2018-63-5-83-87
Abstract
Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and describes the features of this case.
Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported.
About the Authors
A. E. BogoradRussian Federation
S. E. Dyakova
Russian Federation
Yu. L. Mizernitskiy
Russian Federation
L. V. Sokolova
Russian Federation
P. P. Zakharov
Russian Federation
I. E. Zorina
Russian Federation
M. V. Kostyuchenko
Russian Federation
P. A. Shatokha
Russian Federation
References
1. Afzelius B.A., Mossberg B., Bergstrom S.E. Immotile cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome. In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein (eds). The Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw-Hill, 2001; 4817–4827.
2. Розинова Н.Н., Богорад А.Е., Захаров П.П. Первичная цилиарная дискинезия и синдром Картагенера. В кн.: Н.Н. Розинова, Ю.Л. Мизерницкий. Орфанные заболевания легких у детей. М: ИД МЕДПРАКТИКА-М , 2015; 14–27. [Rozinova N.N., Bogorad A.E., Zakharov P.P. Primary ciliary dyskinesia and Kartagener syndrome. In: N.N. Rozinova, Yu.L. Mizernickij. Orphan pulmonary diseases in children Moscow: ID “MEDPRAKTIKA-M”, 2015;14–27. (in Russ)]
3. Kuehni C.E., Lucas J.S. Diagnosis of primary ciliary dyskinesia: summary of ERS Task Force report. Breathe 2017; 13(3): 166–178. DOI: 10.1183/20734735.008517
4. Damseh N., Quercia N., Rumman N., Dell S.D., Kim R.H. Primary ciliary dyskinesia: mechanisms and management. The Application of Clinical Genetics 2017; 10: 67–74. DOI: 10.2147/TACG.S127129
5. Davis S.D., Ferkol T.W., Rosenfeld M., Lee H.-S., Dell S.D., Sagel S.D., Milla C., Zariwala M.A. et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med 2015; 191: 316–324. DOI: 10.1164/rccm.201409-1672OC.
6. Shapiro A.J., Zariwala M.A., Ferkol T., Davis S.D., Sagel S.D., Dell S.D., Rosenfeld M., Olivier K.N. et al. Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol 2016; 51(2): 115–132. DOI: 10.1002/ppul.23304
7. Wallmeier J., Al-Mutairi D.A., Chen C.T., Loges N.T., Pennekamp P., Menchen T., Ma L., Shamseldin H.E. et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet 2014; 46(6): 646–651. DOI: 10.1038/ng.2961
Review
For citations:
Bogorad A.E., Dyakova S.E., Mizernitskiy Yu.L., Sokolova L.V., Zakharov P.P., Zorina I.E., Kostyuchenko M.V., Shatokha P.A. Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(6):83-87. (In Russ.) https://doi.org/10.21508/1027-4065-2018-63-5-83-87