medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2025.05.16-22medgen-2968Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHОценка частоты фибродисплазии оссифицирующей прогрессирующей в РоссииAssessment of the frequency of fibrodysplasia ossificans progressiva (FOP) in RussiaСермягинаИ. Г.SermyaginaI. G.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115522, Russian Federation 

sirina74@mail.ruЩагинаО. А.SchaginaO. A.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115522, Russian Federation

ПоляковА. В.PolyakovA. V.

 115522, г. Москва, ул. Москворечье, д. 1 

1, Moskvorechie st., Moscow, 115522, Russian Federation

ФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation2025300720252451622Copyright © Сермягина И.Г., Щагина О.А., Поляков А.В., 20252025Сермягина И.Г., Щагина О.А., Поляков А.В.Sermyagina I.G., Schagina O.A., Polyakov A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2968

Фибродисплазия оссифицирующая  прогрессирующая (ФОП, FOP, MIM135100) – редкое  аутосомно-доминантное заболевание, характеризующееся возникновением у больного  очагов спонтанной оссификации различной  локализации в мягких тканях. За развитие данного патологического состояния ответственны патогенные варианты, возникающие в гене, ACVR1. С 2009 по 2024 гг. было проведено диагностическое обследование 158 человек с подозрением на ФОП с использованием прямого автоматического секвенирования по Сэнгеру. Причину заболевания удалось установить у 68 (43%) пробандов. На  основании анализа возрастов пациентов была оценена частота встречаемости ФОП в Российской  Федерации. Она составила не менее 1,656 на  миллион или 1 на 604000 новорождённых. 

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.

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The authors declare that there are no conflicts of interest present.