medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.10.3-12medgen-1982Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWКлинические и молекулярно-генетические особенности нейрофиброматоза 2 типаClinical and molecular genetic features of neurofibromatosis typeКарандашеваК. О.KarandashevaK. O.karandasheva@epigenetic.ruМакашоваЕ. С.MakashovaE. S.noemail@neicon.ruМартьяноваА. А.MartyanovaA. A.noemail@neicon.ruАношкинК. И.AnoshkinK. I.noemail@neicon.ruЗолотоваС. В.ZolotovaS. V.noemail@neicon.ruСтрельниковВ. В.StrelnikovV. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationФГАУ «НМИЦ нейрохирургии им. академика Н.Н. Бурденко» Минздрава России; ГБУЗ МКНЦ имени А.С. Логинова ДЗМРоссияNational Medical Research Center for Neurosurgery named after Academician N.N. Burdenko; Moscow Clinical Scientific Center named after LoginovRussian FederationФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияPirogov Russian National Research Medical UniversityRussian FederationФГАУ «НМИЦ нейрохирургии им. академика Н.Н. Бурденко» Минздрава РоссииРоссияNational Medical Research Center for Neurosurgery named after Academician N.N. BurdenkoRussian Federation2021211220212010312Copyright © Карандашева К.О., Макашова Е.С., Мартьянова А.А., Аношкин К.И., Золотова С.В., Стрельников В.В., 20212021Карандашева К.О., Макашова Е.С., Мартьянова А.А., Аношкин К.И., Золотова С.В., Стрельников В.В.Karandasheva K.O., Makashova E.S., Martyanova A.A., Anoshkin K.I., Zolotova S.V., Strelnikov V.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/1982

Нейрофиброматоз 2 типа - редкое генетическое заболевание, этиологическим фактором развития которого являются мутации в гене-онкосупрессоре NF2, кодирующем белок мерлин. В обзоре подробно описаны структура, функции и посттрансляционные модификации мерлина, освещены клинические особенности нейрофиброматоза 2 типа, известные клинико-генетические корреляции, а также представлена информация о сайтах связывания мерлина и о функциональном вкладе расположенных в них мутаций, что закладывает базис персонализированной терапии нейрофиброматоза 2 типа.

Neurofibromatosis type 2 is a rare genetic disorder caused by pathogenic mutations in the NF2 tumor suppressor gene which encodes a protein called merlin. This review describes the structure, functions, and post-translational modifications of merlin, highlights clinical features and known genotype-phenotype correlations of neurofibromatosis type 2, and provides information on the merlin binding sites and the functional contribution of mutations they harbor, which lays the basis for personalized therapy for neurofibromatosis type 2.

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