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Prevalence and genetic profile of multiple epiphyseal dysplasia in russian patient cohort
https://doi.org/10.25557/2073-7998.2025.06.47-49
Abstract
The study presents the frequency analysis of different genetic types of MED in a cohort of 99 unrelated patients from the Russian population. The most prevalent types were MED type 4 (64,6%) and MED type 1 (20,2%). The rare MED types 2, 3, and 5 represented 15,2% of cases. A total of 45 nucleotide variants were identified in the SLC26A2, COMP, COL9A2, COL9A3, and MATN3 genes, with 26 being novel (57,7%). The findings highlight that the broad use of massively parallel sequencing significantly improves the identification of different genetic types of MED.
Keywords
multiple epiphyseal dysplasia,
massive parallel sequencing,
COMP,
SLC26A2,
MATN3,
COL9A1,
COL9A2,
COL9A3
Supporting agencies: The study was carried out with the support of the state assignment of the Ministry of Science and Higher Education of the Russian Federation.
About the Authors
D. V. Gorodilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Daria V. Gorodilova.
1, Moskvorechye st., Moscow, 115522
V. M. Kenis
H.I. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Russian Federation
Russian Federation
64-68, Parkovaya st., Saint Petersburg, Pushkin, 196603
E. V. Melchenko
H.I. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Russian Federation
Russian Federation
64-68, Parkovaya st., Saint Petersburg, Pushkin, 196603
O. A. Schagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
M. D. Orlova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
I. P. Nikishina
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Russian Federation
34А, Kashirskoye shosse, Moscow, 115522
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
References
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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. Kim O.H., Park H., Seong M.W. et al. Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. Am J Med Genet A. 2011;155A(11):2669-2680.
4. Itoh T., Shirahama S., Nakashima E. et al. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. Am J Med Genet A. 2006;140(12):1280-1284.
Review
For citations:
Gorodilova D.V., Kenis V.M., Melchenko E.V., Schagina O.A., Orlova M.D., Ryzhkova O.P., Nikishina I.P., Dadali E.L., Markova T.V. Prevalence and genetic profile of multiple epiphyseal dysplasia in russian patient cohort. Medical Genetics. 2025;24(6):47-49. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.47-49
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