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<article article-type="review-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">ometendo</journal-id><journal-title-group><journal-title xml:lang="ru">Ожирение и метаболизм</journal-title><trans-title-group xml:lang="en"><trans-title>Obesity and metabolism</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2071-8713</issn><issn pub-type="epub">2306-5524</issn><publisher><publisher-name>Endocrinology Research Centre</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14341/omet13334</article-id><article-id custom-type="elpub" pub-id-type="custom">ometendo-13334</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Спектр генетических форм ожирения и связанных с ним расстройств: Прадера-Вилли-подобные синдромы (часть 1)</article-title><trans-title-group xml:lang="en"><trans-title>Spectrum of genetic forms of obesity and related disorders: Prader-Willi-like syndromes (part 1)</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9158-2522</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Панченко</surname><given-names>Е. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Panchenko</surname><given-names>E. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Панченко Елизавета Григорьевна, м.н.с.</p><p>ID РИНЦ: 1080414; WoS: JXX-3224-2024</p><p>Москва </p></bio><bio xml:lang="en"><p>Elizaveta G. Panchenko</p><p>ID РИНЦ: 1080414; WoS: JXX-3224-2024</p><p>Moscow</p></bio><email xlink:type="simple">pangen1994@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0002-6499-4684</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Атавина-Ермакова</surname><given-names>Е. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Atavina-Ermakova</surname><given-names>E. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Атавина-Ермакова Евгения Павловна</p><p>Москва</p></bio><bio xml:lang="en"><p>Evgeniia P. Atavina-Ermakova, MD </p><p>Moscow</p></bio><email xlink:type="simple">atavinaermakovae@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3805-8879</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Николаева</surname><given-names>А. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Nikolaeva</surname><given-names>A. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Николаева Александра Федоровна , н.с. </p><p>ID РИНЦ: 1230208; WoS: GNP-5006-2022; Scopus Author ID: 58137347800</p><p>Москва</p></bio><bio xml:lang="en"><p>Alexandra F. Nikolaeva </p><p>ID РИНЦ: 1230208; WoS: GNP-5006-2022; Scopus Author ID: 58137347800 </p><p>Moscow</p></bio><email xlink:type="simple">Nikolaevaepi@gmail.com</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0006-3084-0707</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бойко</surname><given-names>Т. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Boyko</surname><given-names>T. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бойко Тимур Вячеславович</p><p>Москва</p></bio><bio xml:lang="en"><p>Timur V. Boyko </p><p>Moscow</p></bio><email xlink:type="simple">boyko.timur@inbox.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9299-1053</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Васюкова</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Vasyukova</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Васюкова Ольга Владимировна , к.м.н. </p><p>Researcher ID: AAO-375 0-2020; Scopus Author ID: 57192194141</p><p>Москва</p></bio><bio xml:lang="en"><p>Olga V. Vasyukova, MD, PhD</p><p>Researcher ID: AAO-375 0-2020; Scopus Author ID: 57192194141</p><p>Moscow</p></bio><email xlink:type="simple">Vasukova.Olga@endocrincentr.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0000-2932-0399</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Копытина</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kopytina</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Копытина Дарья Александровна</p><p>Scopus Author ID: 58853779500</p><p>Москва</p></bio><bio xml:lang="en"><p>Daria A. Kopytina, MD</p><p>Scopus Author ID: 58853779500</p><p>Moscow</p></bio><email xlink:type="simple">Kopytina.Daria@endocrincentr.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9717-9742</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мокрышева</surname><given-names>Н. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Mokrysheva</surname><given-names>N. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мокрышева Наталья Георгиевна , д.м.н., профессор, академик РАН</p><p>Researcher ID: AAY-3761-2020; Scopus Author ID: 35269746000</p><p>Москва</p></bio><bio xml:lang="en"><p>Natalia G. Mokrysheva, MD, PhD, Professor</p><p>Researcher ID: AAY-3761-2020; Scopus Author ID: 35269746000</p><p>Moscow</p></bio><email xlink:type="simple">mokrisheva.natalia@endocrincentr.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3133-8018</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Куцев</surname><given-names>С. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Kutsev</surname><given-names>S. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Куцев Сергей Иванович , д.м.н., профессор, академик РАН </p><p>Scopus ID: 8296960500; Researcher ID: L-3633-2018; AuthorID: 80842</p><p>Москва</p></bio><bio xml:lang="en"><p>Sergey I. Kutsev, PhD, Professor</p><p>Scopus ID: 8296960500; Researcher ID: L-3633-2018; AuthorID: 80842</p><p>Moscow</p></bio><email xlink:type="simple">kutsev@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова» ; ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» ; ГБУЗ «Морозовская детская городская клиническая больница Департамента здравоохранения города Москвы»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics ; Federal State Autonomous Educational Institution of Higher Education «N.I. Pirogov Russian National Research Medical University» of the Ministry of Health of the Russian Federation ; Morozov Children's City Clinical Hospital of Moscow Healthcare Department</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ГНЦ ФГБУ «Национальный медицинский исследовательский центр эндокринологии им. академика И.И. Дедова»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Endocrinology Research Centre</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова» ; ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics ; Federal State Autonomous Educational Institution of Higher Education «N.I. Pirogov Russian National Research Medical University» of the Ministry of Health of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2026</year></pub-date><pub-date pub-type="epub"><day>18</day><month>07</month><year>2026</year></pub-date><volume>23</volume><issue>2</issue><fpage>114</fpage><lpage>124</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Панченко Е.Г., Атавина-Ермакова Е.П., Николаева А.Ф., Бойко Т.В., Васюкова О.В., Копытина Д.А., Мокрышева Н.Г., Куцев С.И., 2026</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="ru">Панченко Е.Г., Атавина-Ермакова Е.П., Николаева А.Ф., Бойко Т.В., Васюкова О.В., Копытина Д.А., Мокрышева Н.Г., Куцев С.И.</copyright-holder><copyright-holder xml:lang="en">Panchenko E.G., Atavina-Ermakova E.P., Nikolaeva A.F., Boyko T.V., Vasyukova O.V., Kopytina D.A., Mokrysheva N.G., Kutsev S.I.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.omet-endojournals.ru/jour/article/view/13334">https://www.omet-endojournals.ru/jour/article/view/13334</self-uri><abstract><p>Прадера-Вилли-подобные синдромы (ПВПС) представляют собой гетерогенную группу заболеваний, характеризующихся набором ключевых клинических проявлений, включающих мышечную гипотонию, ожирение, задержку психомоторного и речевого развития, поведенческие проблемы в отсутствие аномалий метилирования хромосомного района 15q11.2q13. Фенотипические проявления ПВПС имеют значительное перекрытие с классическим синдромом Прадера-Вилли (СПВ) — заболеванием из группы нарушений геномного импринтинга. К ПВПС относят некоторые хромосомные синдромы (делеции 1p36, 2pter, 3p26.3, 6q, 10q26, 19p, субтеломерной делеции 12q, парацентрической инверсии Xq26q28, Xq27-qter дисомии, дупликаций 6q, 15q, Xq21.1q21.31, Xq23q25), болезни импринтинга (синдромы Ангельмана, Темпл, псевдогипопаратиреоз 1А, С типов, псевдопсевдогипопаратиреоз и синдром Шаафа-Янг) и моногенные синдромные формы ожирения (синдромы Мартина-Белл, Барде-Бидля, Альстрёма, Коэна, Бьерсона-Форсмана-Лемана, MYT1L-синдром, SIM1-ассоциированное СПВ-подобное ожирение, GNAI1-ассоциированное нарушение развития нервной системы). В связи с этим сочетание генетической гетерогенности ПВПС и отсутствия у его представителей характерного для СПВ молекулярно-генетического дефекта создает существенные сложности для дифференциальной диагностики в клинической практике. Данный обзор систематизирует современные литературные данные, направленные на детализацию фенотипа, тактику ведения и стратегии лечения синдромов Прадера-Вилли-подобного спектра.</p></abstract><trans-abstract xml:lang="en"><p>Prader–Willi–like syndromes (PWLS) represent a heterogeneous group of disorders characterized by a set of key clinical features, including muscular hypotonia, obesity, psychomotor and speech developmental delay, and behavioral problems, in the absence of methylation abnormalities within the chromosomal region 15q11.2q13. The phenotypic manifestations of PWLS show substantial overlap with the classical Prader–Willi syndrome (PWS), a disorder belonging to the group of imprinting disorders. PWLS include certain chromosomal syndromes (deletions of 1p36, 2pter, 3p26.3, 6q, 10q26, 19p, subtelomeric deletion of 12q, paracentric inversion Xq26q28, Xq27–qter disomy, duplications of 6q, 15q, Xq21.1q21.31, Xq23q25), imprinting disorders (Angelman syndrome, Temple syndrome, pseudohypoparathyroidism types 1A and 1C, pseudopseudohypoparathyroidism, Schaaf–Yang syndrome), and monogenic syndromic forms of obesity (Fragile X syndrome, Bardet–Biedl syndrome, Alström syndrome, Cohen syndrome, Börjeson–Forssman–Lehmann syndrome, MYT1L-related syndrome, SIM1-associated PWS-like obesity, GNAI1-associated neurodevelopmental disorder). The combination of the genetic heterogeneity of PWLS and the absence of the specific genetic defect observed in PWS creates significant challenges for differential diagnosis in clinical practice. This literature review systematizes current research data aimed at refining the phenotypic characterization, management approaches, and treatment strategies for syndromes within the Prader–Willi–like spectrum.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>синдром Прадера-Вилли</kwd><kwd>Прадера-Вилли-подобный фенотип</kwd><kwd>болезни импринтинга</kwd><kwd>моногенное ожирение</kwd><kwd>вариант нуклеотидной последовательности</kwd></kwd-group><kwd-group xml:lang="en"><kwd>Prader-Willi syndrome</kwd><kwd>Prader-Willi-like phenotype</kwd><kwd>imprinting disorders</kwd><kwd>monogenic obesity</kwd><kwd>single nucleotide sequence variant</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">статья подготовлена в рамках выполнения государственного задания № 124020700098-5 (ФГБУ «НМИЦ эндокринологии им. академика И.И. Дедова» Минздрава России) и № 125040704897-7 (ФГБНУ «Медико-генетический научный центр им. акад. Н.П. 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