medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.12.56-59medgen-2218Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTОценка патогенности дупликаций, выявленных при микроматричном анализе, на примере двух пациентов с картиной мышечной дистрофии ДюшеннаAssessment of the duplication`s pathogenicity detected by chromosomal microarray, in the example of two patients with Duchenne muscular dystrophyМарковаЖ. Г.MarkovaZh. G.zhmark71@mail.ruМиньженковаМ. Е.MinzhenkovaM. E.noemail@neicon.ruШарковаИ. В.SharkovaI. V.noemail@neicon.ruПетуховаМ. С.PetukhovaM. S.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation20221301202321125659Copyright © Маркова Ж.Г., Миньженкова М.Е., Шаркова И.В., Петухова М.С., Шилова Н.В., 20232023Маркова Ж.Г., Миньженкова М.Е., Шаркова И.В., Петухова М.С., Шилова Н.В.Markova Z.G., Minzhenkova M.E., Sharkova I.V., Petukhova M.S., Shilova N.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/2218

Внутригенные делеции и дупликации представляют собой серьезную проблему при оценке результатов хромосомного микроматричного анализа у пациентов с подозрением на моногенное заболевание. Оценка клинической значимости и каузативности таких генетических вариантов, особенно протяженных дупликаций, затруднена, поскольку CNV, затрагивающие один или несколько экзонов гена, могут иметь различные фенотипические эффекты. В статье представлены результаты обследования двух пациентов с направительным диагнозом мышечная дистрофия. У обоих пациентов при проведении хромосомного микроматричного анализа диагностированы внутригенные дупликации в гене DMD. В работе обсуждаются особенности интерпретации таких CNV и предлагаются рекомендации для окончательной постановки генетического диагноза.

Intragenic deletions and duplications are a major problem in the interpretation of the chromosomal microarray results in patients with suspected monogenic disease. Assessing the clinical significance and causation of such genetic variants, especially extended duplications, is difficult because CNV`s affecting one or more gene exons can have different phenotypic effects. The article presents the results of the examination of two patients with an incoming diagnosis of muscular dystrophy. Intragenic duplications in the DMD gene were diagnosed in both patients during chromosomal microarray analysis. The paper discusses the interpretation features of such CNVs and suggests recommendations for confirmation of the of muscular dystrophy genetics diagnosis.

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