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Assessment of the frequency of fibrodysplasia ossificans progressiva (FOP) in Russia
https://doi.org/10.25557/2073-7998.2025.05.16-22
Abstract
Fibrodysplasia ossificans progressiva (FOP, MIM135100) is a rare autosomal dominant disease characterized by the appearance of foci of spontaneous ossification in soft tissues of various localization in the patient. Pathogenic variants occurring in the ACVR1 gene are responsible for the development of this pathological conditions. From 2009 to 2024, a diagnostic examination of 158 people with suspected FOP using direct automatic Sanger sequencing was conducted. The cause of the disease was identified in 68 (43%) of the samples. Based on the analysis of the patients’ ages, the incidence of Fibrodysplasia ossificans progressiva in the Russian Federation was estimated. It was at least 1,656 per million or 1 per 604,000 newborns.
Keywords
fibrodysplasia ossificans progressiva,
FOP,
ACVR1 gene mutations,
DNA diagnostics,
frequency of occurrence of FOP
Supporting agencies: The study was carried out under the state assignment of the Ministry of Science and Higher Education for the Research Centre for Medical Genetics.
About the Authors
I. G. Sermyagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522, Russian Federation
O. A. Schagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522, Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522, Russian Federation
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For citations:
Sermyagina I.G., Schagina O.A., Polyakov A.V. Assessment of the frequency of fibrodysplasia ossificans progressiva (FOP) in Russia. Medical Genetics. 2025;24(5):16-22. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.16-22
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