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”10.21508/1027-4065-2019-64-1-103-109perinatology-829Research ArticleОБМЕН ОПЫТОМSHARING EXPERIENCESВысокопроизводительное секвенирование ДНК для идентификации генетически детерминированных заболеваний в педиатрической практикеHigh-performance DNA sequencing to identify genetically determined diseases in pediatric practicehttps://orcid.org/0000-0001-8491-0228ВоиноваВ. Ю.VoinovaV. Yu.

Воинова  Виктория  Юрьевна  – доктор медицинских наук, главный научный сотрудник отдела клинической генетики.

125412 Москва,  ул. Талдомская, д.2.

Moscow.

https://orcid.org/0000-0001-7146-7220НиколаеваЕ. А.NikolaevaE. A.

Николаева Екатерина Александровна – доктор медицинских наук,  руководитель отдела клинической генетики.

125412 Москва,  ул. Талдомская, д.2.

Moscow.

https://orcid.org/0000-0002-6672-4242ЩербаковаН. В.ShсherbakovaN. V.

Щербакова Наталья  Владимировна – заведующая лабораторией  молекулярной и биохимической диагностики.

125412 Москва,  ул. Талдомская, д.2.

Moscow.

https://orcid.org/0000-0002-7233-4048ЯблонскаяМ. И.YuablonskayaM. I.

Яблонская Мария Игоревна – кандидат медицинских наук, старший научный сотрудник отдела клинической генетики.

125412 Москва,  ул. Талдомская, д.2.

Moscow.

Научно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian Federation201908032019641103109Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20192019Ltd. “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/829

Технология секвенирования нового поколения (NGS) за последние годы стала важным диагностическим инструментом в педиатрии. В генетической педиатрической  клинике проанализированы результаты применения полноэкзомного  секвенирования у 42 детей с задержкой психического, физического развития и/или аномалиями различных органов и систем. У 19 больных был установлен  первичный генетический  диагноз, и, таким образом, эффективность экзомного секвенирования составила 45%, что несколько выше эффективности  NGS,  приводимой в источниках литературы. В статье представлены клинические наблюдения случаев первичного, возможного,  двойного диагноза, прогностического вторичного варианта, примеры ошибок в интерпретации данных секвенирования. Подчеркивается  важность исследования выявленных мутаций в семьях не только у родителей, но и других родственников пациента. В частности, в случае идентификации Х-сцепленных генетических вариантов обосновывается необходимость их анализа в трех поколениях семьи.

In recent years the technology of new generation sequencing technology (NGS) has become an important diagnostic tool in pediatrics. In the genetic pediatric clinic there were analyzed the results of the use of full excome sequencing in 42 children with the retardation of mental and physical development and / or abnormalities of various organs and systems. There was established a primary genetic diagnosis in 19 patients, and thus, the effectiveness of exomic sequencing was 45%, which is slightly higher than the effectiveness of NGS given in the literature sources. The article presents clinical observations of the cases of primary, or double diagnosis, prognostic secondary variant, examples of errors in the interpretation of sequencing data. The authors emphasize the importance of studying family mutations not only among the parents, but also other relatives of the patient. In particular, in case of the identification of X-linked genetic variants, the authors justify the necessity of analysis in three family generations.

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