medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.12.67-71medgen-2588Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEСемейный случай внутригенной микродупликации MBD5 (2q23.1)Familial case of intragenic microduplication of the MBD5 (2q23.1)ФедотовД. А.FedotovD. A.

Федотов Дмитрий Андреевич

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

Dmitry A. Fedotov

10, Naberejnaya Ushaiki, Tomsk, 634050

dmitry.fedotov@medgenetics.ruКашевароваА. А.KashevarovaA. A.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

ЛопаткинаМ. Е.LopatkinaM. E.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

СаженоваЕ. А.SazhenovaE. A.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

НикитинаТ. В.NikitinaT. V.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

ДроздовГ. В.DrozdovG. V.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

СалюковаО. А.SalukovaO. A.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

РавжаеваЕ. Г.RavzhaevaE. G.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

МинайчеваЛ. И.MinaychevaL. I.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

СеитоваГ. Н.SeitovaG. N.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

ЛебедевИ. Н.LebedevI. N.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

ФГБНУ Томский национальный исследовательский медицинский центр Российской академии наук, Научно-исследовательский институт медицинской генетикиРоссияTomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical GeneticsRussian Federation20242601202523126771Copyright © Федотов Д.А., Кашеварова А.А., Лопаткина М.Е., Саженова Е.А., Никитина Т.В., Дроздов Г.В., Салюкова О.А., Равжаева Е.Г., Минайчева Л.И., Сеитова Г.Н., Лебедев И.Н., 20252025Федотов Д.А., Кашеварова А.А., Лопаткина М.Е., Саженова Е.А., Никитина Т.В., Дроздов Г.В., Салюкова О.А., Равжаева Е.Г., Минайчева Л.И., Сеитова Г.Н., Лебедев И.Н.Fedotov D.A., Kashevarova A.A., Lopatkina M.E., Sazhenova E.A., Nikitina T.V., Drozdov G.V., Salukova O.A., Ravzhaeva E.G., Minaycheva L.I., Seitova G.N., Lebedev I.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/2588

Вариации числа копий участков ДНК (CNV) являются причиной интеллектуальных нарушений, расстройств аутистического спектра, синдрома дефицита внимания и гиперактивности, а также других поражений нервной системы. Те же самые патогенные CNV могут наследоваться от здоровых родителей, а также встречаются у внутриутробно погибших зародышей человека, поднимая вопрос о неполной пенетрантности и плейотропных свойствах некоторых вариаций. В данной работе мы сообщаем о случае моногенной микродупликации в регионе 2q23.1, содержащей ген MBD5, унаследованной от здорового отца, и рассматриваем возможную ассоциацию данной микроструктурной хромосомной аномалии не только с рождением больного ребенка в семье, но и с неразвивающейся беременностью у его матери.

DNA copy number variations (CNVs) are responsible for intellectual disability, autism spectrum disorders, attention deficit hyperactivity disorder, and other nervous system diseases. The same pathogenic CNVs can be inherited from healthy parents and are also found in intrauterine deceased human embryos, raising the question of incomplete penetrance and pleiotropic properties of some variations. In this paper, we report a case of a monogenic microduplication in the 2q23.1 region containing the MBD5 gene inherited from a healthy father, and consider the possible association of this microstructural chromosomal abnormality not only with the birth of an affected child but also with pregnancy loss.

вариации числа копий участков ДНК (copy number variationCNV)нарушение психомоторного развития (НПР)спонтанный абортусDNA copy number variation (CNV)neurodevelopmental disorders (NDD)spontaneous abortionИсследование выполнено за счет гранта Российского научного фонда № 21-65-00017, https://rscf.ru/project/21-65-00017/This study was supported by the Russian Science Foundation project 21-65-00017, https://rscf.ru/project/21-65-00017/ReferencesKashevarova A.A., Drozdov G.V., Fedotov D.A. et al. Pleiotropy of Copy Number Variation in Human Genome. Russ J Genet. 2022; 58 (10): 1180–1192. doi:10.1134/S1022795422100040Kashevarova A.A., Drozdov G.V., Fedotov D.A. et al. Pleiotropy of Copy Number Variation in Human Genome. Russ J Genet. 2022; 58 (10): 1180–1192. doi:10.1134/S1022795422100040Kikas T., Punab A.M., Kasak L, et al. Microdeletions and microduplications linked to severe congenital disorders in infertile men. 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The authors declare that there are no conflicts of interest present.