medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-347Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASEХ-сцепленная умственная отсталость (тип Кантагреля) у девочки: клинический случай из практикиX-linked intellectual disability (Cantagrel type) in girl: clinical case from practiceКожановаТ. В.KozhanovaT. V.noemail@neicon.ruЖилинаС. С.ZhilinaS. S.noemail@neicon.ruМещеряковаТ. И.MescheryakovaT. I.noemail@neicon.ruПрокопьеваН. П.Prokop`evaN. P.noemail@neicon.ruОсиповаК. В.OsipovaK. V.noemail@neicon.ruАйвазянС. О.AivazyanS. O.noemail@neicon.ruКанивецИ. В.KanivetsI. V.noemail@neicon.ruКоноваловФ. А.KonovalovF. A.noemail@neicon.ruТолмачеваЕ. Р.TolmachevaE. R.noemail@neicon.ruКошкинФ. А.KoshkinF. A.noemail@neicon.ruПритыкоА. Г.PritykoA. G.noemail@neicon.ruГБУЗ «НПЦ спец. мед. помощи детям ДЗМ»; ГБОУ ВПО РНИМУ им. Н.И. ПироговаРоссияScientific and Practical Center of children medical care; Pirogov Russian National Research Medical UniversityRussian FederationГБУЗ «НПЦ спец. мед. помощи детям ДЗМ»РоссияScientific and Practical Center of children medical careRussian FederationООО «Геномед»РоссияGenomedRussian Federation20172002201816114245Copyright © Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Прокопьева Н.П., Осипова К.В., Айвазян С.О., Канивец И.В., Коновалов Ф.А., Толмачева Е.Р., Кошкин Ф.А., Притыко А.Г., 20182018Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Прокопьева Н.П., Осипова К.В., Айвазян С.О., Канивец И.В., Коновалов Ф.А., Толмачева Е.Р., Кошкин Ф.А., Притыко А.Г.Kozhanova T.V., Zhilina S.S., Mescheryakova T.I., Prokop`eva N.P., Osipova K.V., Aivazyan S.O., Kanivets I.V., Konovalov F.A., Tolmacheva E.R., Koshkin F.A., Prityko A.G.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/347

Х-сцепленная умственная отсталость, тип Кантагреля (MIM #300912; ORPHA:85277) характеризуется выраженной неонатальной гипотонией умственной отсталостью, задержкой психомоторного развития, отсутствующей или слабо развитой речью, аутистическими чертами характера (стереотипные движения рук и стереотипное поведение), послеродовой задержкой роста и микроцефалией. В статье приводится описание случая выявления мутации в гене KIAA2022 у девочки 5 лет с эпилепсией, выраженной задержкой психомоторного, речевого и интеллектуального развития, нарушением поведения и аутистическими чертами характера. При проведении генетического исследования выявлена ранее не описанная гетерозиготная мутация в экзоне 3 гена KIAA2022 - p.Asp451fs, валидированная методом секвенирования по Сэнгеру. У родителей ребенка мутация не найдена. При исследовании CAG-повтора экзона 1 гена AR у пробанда неслучайная инактивация X-хромосомы не выявлена. Мутации в гене KIAA2022 могут быть причиной эпилептической энцефалопатии и умственной отсталости не только у мальчиков, но и у девочек, что имеет важное значение для определения тактики генетического тестирования, медицинского сопровождения и медико-генетического консультирования

X-linked mental retardation, Cantagrel type ((MIM #300912; ORPHA:85277) is characterised by marked neonatal hypotonia, severely delayed developmental milestones, gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. The article describes the case of mutation in the KIAA2022 gene in a 5-year-old girl with epilepsy, psychomotor, speech and intellectual development delay, behavioral disorders and autistic characters. Previously unknown heterozygous mutation in KIAA2022 gene , 3 exon (p.Asp451fs) was detected by targeted sequencing. Mutation was validated by the Sanger sequencing. The mutation was not found in parents of the child. Skewed X-inactivation was not detected in the study of CAG-repeat, AR gene, 1 exon in the proband. Mutations in the KIAA2022 gene can cause epileptic encephalopathy and intellectual disability in both boys and girls. It is important for genetic testing, medical management and genetic counseling.

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