vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v24i6.2980vsp-3904Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSНеполный фенотип аутосомно-доминантной спастической параплегии с интеллектуальной недостаточностью, нистагмом и ожирением (синдром SINO), ассоциированной с патогенным вариантом гена KIDINS220: клинический случайIncomplete Phenotype of Autosomal Dominant Spastic Paraplegia with Intellectual Disability, Nystagmus, and Obesity (SINO Syndrome) Associated with Pathogenic Variant in the KIDINS220 Gene: Case Studyhttps://orcid.org/0000-0002-4079-3450КлочковаО. А.KlochkovaOlga A.

Клочкова Ольга Андреевна, кандидат медицинских наук, заведующая отделом разработки научных подходов к ведению детей с двигательными нарушениями;

врач-невролог

119333, Москва, ул. Фотиевой, д. 10, стр. 1, тел.: +7 (499) 137-01-97

Moscow

dc.klochkova@gmail.comhttps://orcid.org/0009-0004-5211-4269ВрачинскаяЛ. Ю.VrachinskayaLyudmila U.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; ООО «Наше время»РоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; LLC “Nashe vremya”Russian FederationООО «Наше время»РоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of SurgeryRussian Federation202518012026246469476Copyright © Клочкова О.А., Врачинская Л.Ю., 20262026Клочкова О.А., Врачинская Л.Ю.Klochkova O.A., Vrachinskaya L.U.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3904

Обоснование. Наследственные спастические параплегии (НСП) — это клинически и генетически гетерогенная группа нейродегенеративных заболеваний. Описано более 90 форм НСП с аутосомно-доминантным, аутосомнорецессивным, Х-сцепленным и митохондриальным типами наследования. В числе аутосомно-доминантных вариантов НСП недавно описана спастическая параплегия с интеллектуальной недостаточностью, нистагмом и ожирением (SINO; OMIM #617296), ассоциированная с гетерозиготными патогенными вариантами гена KIDINS220. В российской популяции случаи болезни ранее не описаны.Описание клинического случая. Представлен анализ спорадического случая синдрома SINO у пациентки 3,5 лет. Диагноз подтвержден молекулярно-генетически, обнаружен ранее не описанный патогенный вариант chr2:8730980T>TC (с.5055dupG; p.Asn1686fs) гена KIDINS220 в гетерозиготной форме. Особенностью случая является неполное проявление типичного фенотипа синдрома и наличие разнообразных сопутствующих симптомов. Наряду с признаками спастической параплегии и высокими антропометрическими показателями наблюдались липома мозолистого тела, преждевременное телархе, свищ костей спинки носа, однако интеллектуальная недостаточность, нистагм и ожирение отсутствовали.Заключение. Описанный случай подтверждает последние данные о связи патогенных вариантов гена KIDINS220 со спектром нарушений нейроразвития и экстраневральных проявлений, обусловленных ролью кодируемого белка в дифференцировке нейронов и различных сигнальных путях. Анализ клинической картины синдрома SINO расширяет наши представления о фенотипе заболевания.

Background. Hereditary spastic paraplegia (HSP) is clinically and genetically heterogeneous group of neurodegenerative diseases. More than 90 forms of NSP with autosomal dominant, autosomal recessive, X-linked and mitochondrial inheritance have been described. One of the recently described autosomal dominant forms is spastic paraplegia with intellectual disability, nystagmus, and obesity (SINO syndrome; OMIM #617296) associated with heterozygous variants in the KIDINS220 gene. There are no cases of this disease described in Russian population.Case description. Sporadic case of SINO syndrome in 3.5-year-old female patient is presented. The diagnosis was confirmed by molecular genetic testing: novel pathogenic variant chr2:8730980T>TC (p.5055dupG; p.Asn1686fs) in the KIDINS220 gene was revealed in heterozygous state. The specific feature of this case was incomplete manifestation of syndrome typical phenotype and presence of various comorbid symptoms. Along with spastic paraplegia manifestations and high anthropometric indicators there was corpus callosum lipoma, premature thelarche, dorsal fistula, however, intellectual disability, nystagmus and obesity were absent.Conclusion. The described case confirms recent data on the association of pathogenic variants in the KIDINS220 gene with neurodevelopmental disorders and extraneural manifestations determined by the encoded protein role in neuronal differentiation and various signaling pathways. Analysis of SINO syndrome clinical picture expands our understanding of disease phenotype.

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