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”10.21508/1027-4065-2024-69-4-85-89perinatology-2033Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESАутосомно-доминантное нарушение интеллектуального развития Паренти–Миньо: случай, связанный с новым вариантом в гене CHD5Parenti–Migno neurodevelopmental disorder: a case associated with a new variant in the CHD5 genehttps://orcid.org/0009-0008-5168-535XКудакаеваА. А.KudakaevaA. A.

Алия Анваровна Кудакаева, лаборант-исследователь

лаборатория клинической геномики и биоинформатики

125412; ул. Талдомская, д. 2; Москва

Moscow

https://orcid.org/0000-0002-4024-5171ДанцевИ. С.DantsevI. S.

Илья Сергеевич Данцев, врач-генетик, зав. лабораторией

педиатрическое отделение врожденных и наследственных заболеваний; лаборатория клинической геномики и биоинформатики

125412; ул. Талдомская, д. 2; Москва

Moscow

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

Виктория Юрьевна Воинова, д. м. н., зав. отделом

отдел клинической генетики

125412; ул. Талдомская, д. 2; Москва

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» (Институт Вельтищева) ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltishev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian Federation2024010920246948589Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20242024Ltd. “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/2033

   Нарушение интеллектуального развития Паренти–Миньо — редкая синдромальная форма задержки психического развития детей, связанная с геном CHD5, частота которой не установлена. В настоящее время описано 16 больных с данной патологией. CHD5 относится к консервативному семейству белков — ремодуляторов хроматина, входит в комплекс гистоновых деацетилаз NuRD, важен для ранней дифференцировки нейронов центральной нервной системы и является онкосупрессором. Недавно благодаря применению полноэкзомного секвенирования впервые была описана связь этого гена с синдромом нарушения интеллектуального развития Паренти–Миньо у больных с задержкой развития, психоневрологическими расстройствами, особенностями лицевого фенотипа и патологией черепа. Представлен уникальный случай заболевания, связанный с новым вариантом p.Arg1521Thr в гене CHD5, у девочки с интеллектуальными и неврологическими нарушениями, черепно-лицевыми дисморфиями, а также с ранее не описанными симптомами, такими как расщелина губы и неба, гидроцефалия и патология почек. Установить причину болезни позволило проведение полногеномного секвенирования, что отражает ценность метода в диагностике недифференцированных форм нарушений интеллекта.

   Parenti–Migno neurodevelopmental disorder is a rare syndromal form of intellectual disability in children, associated with the CHD5 gene, the prevalence of which is not established. Currently, 16 patients with this pathology have been described. CHD5 belongs to the conservative family of chromatin remodeler proteins, is part of the histone deacetylase NuRD complex, and is crucial for the early differentiation of neurons in the central nervous system and acts as a tumor suppressor. Recently, thanks to the application of whole-exome sequencing, the association of this gene with Parenti–Migno neurodevelopmental disorder was first described in patients with developmental delay, psycho-neurological disturbances, facial phenotype features, and skull pathology. We present a unique case of the disease associated with a new variant p.Arg1521Thr in the CHD5 gene, in a girl with intellectual and neurological impairments, craniofacial dysmorphism, as well as previously undescribed symptoms such as cleft lip and palate, hydrocephalus, and renal pathology. The cause of the disease was determined through whole-genome sequencing, which highlights the value of this method in the diagnosis of undifferentiated forms of intellectual disabilities.

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