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Characteristics of a cohort of Russian patients with sceletal ciliopathys
https://doi.org/10.25557/2073-7998.2025.08.74-76
Abstract
The study presents clinical and genetic groups within a cohort of 45 Russian patients. We show six clinical groups with identified nucleotide sequence variants in 12 genes: DYNC2H1, DYNC2I2, IFT122, IFT80, IFT140, WDR19, WDR35, EVC, EVC2, CFAP410, OFD1, and CPLANE1. It is noted that 40 % of the cases belong to four types of thoracic dysplasia with short ribs, with or without polydactyly. Within this group, 61.1 % represent type 3, which is associated with the DYNC2H1 gene. Ultra-rare variants of skeletal ciliopathies have been identified.
Supporting agencies: The study was carried out according to the state assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre for Medical Genetics
About the Authors
A. R. Morgul
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
D. V. Gorodilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
M. V. Sharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
E. Yu. Nuzhnaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
I. A. Komolkin
Saint Petersburg State Research Institute of Phthisiopulmonology
Russian Federation
Russian Federation
191036; 2-4, Ligovsky Prospekt; Saint Petersburg
T. S. Nagornova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
References
1. Handa A., Voss U., Hammarsjö A., et al. Skeletal ciliopathies: a pattern recognition approach. Jpn J Radiol. 2020;38(3):193-206.
2. Unger S., Ferreira C.R., Mortier G.R. et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023; 191(5): 1164-1209.
3. Lai B., Jiang H., Gao Y., Zhou X. Skeletal ciliopathy: pathogenesis and related signaling pathways. Mol Cell Biochem. 2024; 479(4): 811-823.
Review
For citations:
Morgul A.R., Gorodilova D.V., Sharova M.V., Nuzhnaya E.Yu., Komolkin I.A., Nagornova T.S., Ryzhkova O.P., Markova T.V. Characteristics of a cohort of Russian patients with sceletal ciliopathys. Medical Genetics. 2025;24(8):74-76. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.74-76
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