problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13530problendo-13530Research ArticleДетская эндокринологияPediatric EndocrinologyКлиническая и молекулярно-генетическая характеристика серии случаев синдрома Флоатинг-ХарборClinical and molecular genetic features of cases of Floating-Harbor syndromehttps://orcid.org/0000-0003-0412-7140МакрецкаяН. А.MakretskayaN. A.

Макрецкая Нина Алексеевна, к.м.н. 

ул. Москворечье, д. 1, 115522, Москва

Nina A. Makretskaya, MD, PhD

1 Moskvorechye street, 115522 Moscow

makretskayan@gmail.comhttps://orcid.org/0000-0003-0640-9758ИсмагиловаО. Р.IsmagilovaO. R.

Исмагилова Ольга Раисовна

Москва

Olga R. Ismagilova

Moscow

ismolga.mg@gmail.comhttps://orcid.org/0000-0003-2151-6025ШестопаловаЕ. А.ShestopalovaE. A.

Шестопалова Елена Андреевна

Москва

Elena A. Shestopalova

Moscow

elshest@mail.ruhttps://orcid.org/0000-0003-3148-6915ШароваМ. В.SharovaM. V.

Шарова Маргарита Викторовна

Москва

Margarita V. Sharova

Moscow

sharova@med-gen.ruhttps://orcid.org/0000-0001-9465-4213ЛевченкоО. А.LevchenkoO. A.

Левченко Ольга Александровна

Москва

Olga A. Levhenko

Moscow

olevchenko@med-gen.ruhttps://orcid.org/0000-0003-3127-5974БолмасоваА. В.BolmasovaA. V.

Болмасова Анна Викторовна, к.м.н. 

Москва

Anna V. Bolmasova, MD, PhD

Moscow

anna_bolmasova@mail.ruhttps://orcid.org/0000-0002-8674-7230БулахМ. В.BulakhM. V.

Булах Мария Васильевна, к.м.н. 

Москва

Maria V. Bulakh, PhD

Moscow

bulakh@gmail.comhttps://orcid.org/0000-0002-0649-5062ЗабненковаВ. В.ZabnenkovaV. V.

Забненкова Виктория Владимировна, к.м.н. 

Москва

Viktoriia V. Zabnenkova, PhD

Moscow

zabnenkova.vv@gmail.comhttps://orcid.org/0000-0002-8831-1844ОрловаА. А.OrlovaA. A.

Орлова Анна Александровна

Москва

Anna A. Orlova

Moscow

annaf-orlova@yandex.ruhttps://orcid.org/0000-0001-7736-5372КолодкинаА. А.KolodkinaA. A.

Колодкина Анна Александровна, к.м.н., с.н.с. 

Москва

Anna A. Kolodkina, MD, PhD, senior research associate

Moscow

 

anna_kolodkina@mail.ruhttps://orcid.org/0000-0003-1285-9093РыжковаО. П.RyzhkovaO. P.

Рыжкова Оксана Петровна, к.м.н. 

Москва

Oksana P. Ryzhkova

Moscow

ryzhkova@dnalab.ruhttps://orcid.org/0000-0002-0105-1833ПоляковА. В.PoliakovA. V.

Поляков Александр Владимирович, д.б.н., зав лаб. 

Москва

Aleksandr V. Poliakov

Moscow

apol@dnalab.ruhttps://orcid.org/0000-0001-8500-4841ТюльпаковА. Н.TiulpakovA. N.

Тюльпаков Анатолий Николаевич, д.м.н. 

Москва

Anatoliy N. Tyulpakov, MD, PhD

Moscow

anatolytiulpakov@gmail.comМедико-генетический научный центр им. акад. Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationНациональный медицинский исследовательский центр эндокринологии им. академика И.И. ДедоваРоссияI.I. Dedov Endocrinology Research CentreRussian FederationМедико-генетический научный центр им. акад. Н.П. Бочкова; Российская детская клиническая больницаРоссияResearch Centre for Medical Genetics; Russian Children’s Clinical HospitalRussian Federation2025220720257135661Copyright © Макрецкая Н.А., Исмагилова О.Р., Шестопалова Е.А., Шарова М.В., Левченко О.А., Болмасова А.В., Булах М.В., Забненкова В.В., Орлова А.А., Колодкина А.А., Рыжкова О.П., Поляков А.В., Тюльпаков А.Н., 20252025Макрецкая Н.А., Исмагилова О.Р., Шестопалова Е.А., Шарова М.В., Левченко О.А., Болмасова А.В., Булах М.В., Забненкова В.В., Орлова А.А., Колодкина А.А., Рыжкова О.П., Поляков А.В., Тюльпаков А.Н.Makretskaya N.A., Ismagilova O.R., Shestopalova E.A., Sharova M.V., Levchenko O.A., Bolmasova A.V., Bulakh M.V., Zabnenkova V.V., Orlova A.A., Kolodkina A.A., Ryzhkova O.P., Poliakov A.V., Tiulpakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13530

Синдром Флоатинг-Харбор — аутосомно-доминантное заболевание, входящее в группу наследственных вариантов низкорослости. Клиническая картина заболевания включает в себя задержку роста, речевого развития и специфические лицевые аномалии: лицо треугольное с узким подбородком, глаза глубоко посаженные, фильтр короткий, макростомия, тонкая верхняя губа, нос с узкой переносицей и широкими основанием и кончиком, свисающая колумелла. Формирование синдрома ассоциировано с гетерозиготными патогенными вариантами в 33 и 34 экзонах гена SRCAP, приводящие к укорочению длины белка. Гетерогенность и отсутствие специфических клинических проявлений зачастую усложняет постановку данного диагноза, чем обусловлена необходимость в молекулярно-генетической верификации. В настоящей работе нами представлено первое в Российской Федерации описание 6 пациентов с доказанным синдромом Флоатинг-Харбор.

Floating-Harbor syndrome is an autosomal dominant genetic disorder that is part of a group of growth retardation. The main clinical features of syndrome are short stature, delayed speech development and peculiar facial features: triangular face with a narrow chin, deeply set eyes, a short filter, a macrostomy, a nose with a narrow bridge and wide base and tip, a drooping columella. The syndrome is associated with heterozygous pathogenic variants were truncating and occurred in 33 and 34 exons of SRCAP. Heterogeneity and the absence of specific clinical features complicates the formulation of this diagnosis, which necessitates molecular genetic verification. In this paper, we present the first description of 6 patients with proven Floating-Harbor syndrome in the Russian Federation.

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