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”10.21508/1027-4065-2016-61-6-13-20perinatology-410Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSГЕНЕТИКА УМСТВЕННОЙ ОТСТАЛОСТИGENETICS OF MENTAL RETARDATIONЛавровА. В.LavrovA. V.

к.м.н.– зав. лабораторией мутагенеза, Медико-генетического научного центра, доцент кафедры молекулярной и клеточной генетики медико-биологического факультета РНИМУ имени Н.И. Пирогова

БанниковА. В.BannikovA. V.

научн. сотр. лаборатории

ЧаушеваА. И.ChaushevaA. I.

к.м.н., ст.н.с. лаборатории

ДадалиЕ. Л.DadaliE. L.

д.м.н., проф., гл. научн.сотр. научно-консультативного отделения

ФГБНУ «Медико-генетический научный центр», Москва; ФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава России, Москва, РоссияРоссияResearch Center for Medical Genetics, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow, RussiaRussian FederationФГБНУ «Медико-генетический научный центр», МоскваРоссияResearch Center for Medical Genetics, MoscowRussian Federation2016040120176161320Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20172017Ltd. “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/410

Умственная отсталость встречается, по разным оценкам, у 1–3% населения. Клинически принято классифицировать умственную отсталость по тяжести, однако нозологическая классификация до сих пор остается нерешенной задачей. От 25 до 50% случаев умственной отсталости являются результатом генетических нарушений на хромосомном или генном уровне. Известны возможные варианты генетически обусловленных заболеваний – хромосомные, аутосомно-доминантные, аутосомно-рецессивные, Х-сцепленные и многофакторные. В большинстве случаев клинически невозможно заподозрить конкретную причину умственной отсталости. До недавнего времени эта неопределенность не позволяла провести прицельную ДНК-диагностику и пациенты оставались без молекулярного диагноза, а семьи с такими пациентами – без возможности планирования рождения здорового ребенка. С приходом технологий высокопроизводительного параллельного секвенирования стало возможно проводить анализ не только отдельных мутаций или генов, но и целого экзома и даже генома в клинико-диагностических целях. В обзоре рассмотрены эпидемиологические, клинические и генетические аспекты гетерогенности умственной отсталости. Приведены расчеты числа генов, дефекты которых связаны с умственной отсталостью и показаны перспективы ее диагностики новыми высокопроизводительными методами.

According to various estimates, mental retardation occurs in 1-3% of the population. Mental retardation is customary to clinically classify in terms of its severity; however, its classification still remains a challenge. Gene or chromosome abnormalities are responsible for 25 to 50% of mental retardation cases. Possible variants of genetically determined disorders are known as chromosomal, autosomal dominant, autosomal recessive, X-linked, and multifactorial ones. The specific cause of mental retardation cannot be clinically suspected in most cases. Until recently, this uncertainty has not allowed for target DNA diagnosis and the patients have remained without molecular diagnosis, and the families of these patients could not plan the birth of a healthy child. With the advent of a high-performance parallel sequencing technology, it has become possible to analyze not only individual mutations or genes, but whole exome and even genome for clinical and diagnostic purposes. The review considers the epidemiological, clinical, and genetic aspects of the heterogeneity of mental retardation. It gives calculations of the number of genes, defects of which are associated with mental retardation and shows prospects for its diagnosis using the new high-performance diagnostic techniques.

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