medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.02.23-31medgen-2043Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEСиндром Вервери-Бреди, ассоциированный с мутациями в гене QRICH1 (клинические случаи)Ververi-Brady syndrome associated with QRICH1 variants (clinical cases)КожановаТ. В.KozhanovaT. V.vkozhanov@bk.ruЖилинаС. С.ZhilinaS. S.noemail@neicon.ruМещеряковаТ. И.MescheryakovaT. I.noemail@neicon.ruЛукьяноваЕ. Г.Luk`yanovaE. G.noemail@neicon.ruСушкоЛ. М.SushkoL. M.noemail@neicon.ruОсиповаК. В.OsipovaK. V.noemail@neicon.ruАйвазянС. О.AyvazyanS. O.noemail@neicon.ruПритыкоА. Г.PritykoA. G.noemail@neicon.ruЗаваденкоН. Н.ZavadenkoN. N.noemail@neicon.ruГБУЗ «Научно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого» ДЗ г. Москвы; ФГАОУ ВО Российский национальный исследовательский медицинский университет имени Н.И. Пирогова МЗ РФРоссияSt. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical UniversityRussian FederationГБУЗ «Научно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого» ДЗ г. МосквыРоссияSt. Luka’s Clinical Research Center for ChildrenRussian FederationФГАОУ ВО Российский национальный исследовательский медицинский университет имени Н.И. Пирогова МЗ РФРоссияPirogov Russian National Research Medical UniversityRussian Federation2022050720222122331Copyright © Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Лукьянова Е.Г., Сушко Л.М., Осипова К.В., Айвазян С.О., Притыко А.Г., Заваденко Н.Н., 20222022Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Лукьянова Е.Г., Сушко Л.М., Осипова К.В., Айвазян С.О., Притыко А.Г., Заваденко Н.Н.Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Luk`yanova E.G., Sushko L.M., Osipova K.V., Ayvazyan S.O., Prityko A.G., Zavadenko N.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.medgen-journal.ru/jour/article/view/2043

В последние десятилетия достижения в области применения полноэкзомных и полногеномных технологий секвенирования позволили идентифицировать большое количество генов, связанных с умственной отсталостью, включая редкие формы, в частности, ассоциированные с мутациями в гене QRICH1. Синдром Вервери-Брэди (СВБ; MIM# 617982) - редкий синдром с аутосомно-доминантным типом наследования, характеризуется нарушением интеллекта, задержкой речи и легкими дисморфическими чертами лица. Впервые в России представлено клиническое и молекулярное описание двух пациентов с эпилепсией, задержкой развития и речи, мягкими дисморфическими чертами лица. При полноэкзомном секвенировании выявлены варианты нуклеотидной последовательность в гене QRICH1 -миссенс-мутация (c.1711G>A; p. Asp571Asn) и мутация сдвига рамки считывания (c.1963_1964insT; p.Lys655IlefsTer). На сегодняшний день в мире зарегистрировано 38 пациентов с мутациями в гене QRICH1.

Recent advances in sequencing technologies have enabled identification of multiple genes associated with intellectual disability disorders, including QRICH1 gene. Ververi-Brady syndrome (VBS; MIM: #617982) is a rare developmental disorder, characterized by mild developmental delay, mildly impaired intellectual development and speech delay and mild dysmorphic facial features. For the first time in Russia, clinical and molecular description of two patients with epilepsy, developmental and speech delay, and mild dysmorphic facial features is presented. The variants nucleotide sequence in QRICH1 gene - missense mutation (c.1711G>A; p. Asp571Asn) and frameshift mutations (c.1963_1964insT; p.Lys655IlefsTer) were detected by whole exome sequencing. To date, thirty-eight individuals have been reported with QRICH1 mutations in the world.

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