perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2020-65-3-25-31perinatology-1146Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSСиндром Ретта в России и за рубежом: научный исторический обзорRett syndrome in Russia and abroad: a scientific historical reviewВорсановаС. Г.VorsanovaS. G.

Ворсанова Светлана Григорьевна – д.б.н., проф., засл. деят. науки РФ, акад. РАЕ, зав. лабораторией молекулярной цитогенетики нервно-психических заболеваний; гл. науч. сотр. лаборатории молекулярной генетики и цитогеномики мозга им. профессора Ю.Б. Юрова

125412 Москва, ул. Талдомская, д. 2

svorsanova@mail.ruhttps://orcid.org/0000-0002-9251-2286ЮровЮ. Б.YurovYu. B.

Юров Юрий Борисович – д.б.н., проф., засл. деят. науки РФ, академик РАЕ, гл. науч. сотр. лаборатории молекулярной цитогенетики нервно-психических заболеваний (до декабря 2017 г.); академик РАЕ, зав. лабораторией цитогенетики и геномики психических заболеваний (до декабря 2017 г.)

125412 Москва, ул. Талдомская, д. 2

https://orcid.org/0000-0001-8491-0228ВоиноваВ. Ю.VoinovaV. Yu.

Воинова Виктория Юрьевна – д.м.н., гл. науч. сотр. отдела клинической генетики; вед. науч. сотр. лаборатории молекулярной генетики и цитогеномики мозга им. профессора Ю.Б. Юрова

125412 Москва, ул. Талдомская, д. 2

https://orcid.org/0000-0002-4134-8367ЮровИ. Ю.YurovI. Yu.

Юров Иван Юрьевич – д.б.н., проф. РАН, гл. науч. сотр. лаборатории молекулярной цитогенетики нервно-психических заболеваний; проф. РАН, зав. лабораторией молекулярной генетики и цитогеномики мозга им. профессора Ю.Б. Юрова; проф. кафедры медицинской генетики

115522 Москва, Каширское шоссе, д. 34

ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБНУ «Научный центр психического здоровья»РоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Mental Health Research CenterRussian FederationОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; ФГБНУ «Научный центр психического здоровья»; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования»РоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Mental Health Research Center; Russian Medical Academy of Continuing Postgraduate EducationRussian Federation2020070720206532531Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20202020Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1146

В обзоре представлены теоретические, практические и географические аспекты изучения синдрома Ретта и других редких заболеваний по данным последнегоVIII Международного конгресса, который был проведен в России, и основных публикаций по синдрому Ретта. Несмотря на то, что с момента проведения конгресса прошло некоторое время, освещенные его участниками проблемы, остаются актуальными в настоящее время и определяют направление современных исследований. Было сформировано представление о молекулярных и клеточных механизмах синдрома Ретта и ряда редких генетических/ геномных заболеваний. В статье представлен ряд отечественных разработок, полученных в области изучения синдрома Ретта и других редких заболеваний. Дана информация по редким болезням, ассоциированным с фенотипом, подобным синдрому Ретта, или с мутациями/вариациями числа копий последовательности гена MECP2. Выявленные хромосомные (геномные) нарушения/заболевания рассмотрены в контексте редких болезней. Данный подход к анализу результатов по изучению синдрома Ретта является новым в мировой исследовательской практике. Приведенная информация будет полезна специалистам в области редких генетических заболеваний, ученым и клиницистам, изучающим синдром Ретта, а также врачам (педиатрам, генетикам, неврологам, психиатрам), которые наблюдают этих больных в клинической практике.

This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and other rare diseases. The authors also present information on rare diseases associated with the Rett-like-phenotype or with mutations/variations of the MECP2 gene sequence copies. The authors consider the identified chromosomal (genomic) disorders / diseases in the context of rare diseases. This approach to the Rett syndrome studies analysis is quite new in the world research practice. We hope this review to become valuable not only for specialists in the field of rare genetic diseases, but also for the scientists and clinicians studying Rett syndrome and for physicians (pediatricians, geneticists, neurologists, psychiatrists) meeting these patients in their practice.

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