Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press58910.17650/2222-8721-2024-14-1-42-50ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯSpecial clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patientsОсобенности клинических проявлений и генетических характеристик синдрома Шаафа–Янга у российских пациентовhttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

Elena Leonidovna Dadali

1 Moskvorechye St., Moscow 115522

Елена Леонидовна Дадали

115522 Москва, ул. Москворечье, 1

genclinic@yandex.ruhttps://orcid.org/0000-0002-2672-6294MarkovaT. V.МарковаТ. В.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-5337-1775BostanovaF. M.БостановаФ. М.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-3153-7041KuchinaA. S.КучинаА. С.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-5946-4577BessonovaL. A.БессоноваЛ. А.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0001-5436-836XMelnikE. A.МельникЕ. А.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-0649-5062ZabnenkovaV. V.ЗабненковаВ. В.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0003-1285-9093RyzhkovaO. P.РыжковаО. П.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-6655-4108AgranovichO. E.АграновичО. Е.
Russian Federation

64–68 Parkovaya St., Pushkin, Saint Petersburg 196603

196603 Санкт-Петербург, Пушкин, ул. Парковая, 64–68

Research Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»H. Turner National Medical Research Center for Children’s Orthopedics and Trauma SurgeryФБГУ «Национальный медицинский исследовательский центр детской травматологии и ортопедии им. Г.И. Турнера»0103202414142500103202401032024Copyright ©; 2024, Dadali E.L., Markova T.V., Bostanova F.M., Kuchina A.S., Bessonova L.A., Melnik E.A., Zabnenkova V.V., Ryzhkova O.P., Agranovich O.E.Copyright ©; 2024, Дадали Е.Л., Маркова Т.В., Бостанова Ф.М., Кучина А.С., Бессонова Л.А., Мельник Е.А., Забненкова В.В., Рыжкова О.П., Агранович О.Е.2024Dadali E.L., Markova T.V., Bostanova F.M., Kuchina A.S., Bessonova L.A., Melnik E.A., Zabnenkova V.V., Ryzhkova O.P., Agranovich O.E.Дадали Е.Л., Маркова Т.В., Бостанова Ф.М., Кучина А.С., Бессонова Л.А., Мельник Е.А., Забненкова В.В., Рыжкова О.П., Агранович О.Е.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/589

A description of the clinical and genetic characteristics of four Russian patients with Schaaf–Yang syndrome, caused by previously described and newly identified nucleotide variants in MAGEL2 gene, is presented. It was shown that the most severe clinical manifestations were found in a patient with the new identified variant c.1828C>T (p.Gln610Ter), while in a patient with a new nucleotide variant c.1609C>T (p.Gln537Ter) the manifestations of the disease were moderate. Considering the significant similarity of the clinical manifestations of Schaaf–Yang syndrome with Prader–Willi syndrome, the criteria for their differential diagnosis are outlined, the use of which will help optimize the process of molecular genetic analysis aimed at finding the etiologic factor.

Представлено описание клинико‑генетических характеристик 4 российских пациентов с синдромом Шаафа–Янга, обусловленным ранее описанными и вновь выявленными нуклеотидными вариантами в гене MAGEL2. Показано, что наиболее тяжелые клинические проявления обнаружены у пациента с вновь выявленным вариантом с.1828С>T (p.Gln610Ter), в то время как у пациента с новым нуклеотидным вариантом с.1609С>T (p.Gln537Ter) проявления болезни выражены умеренно. С учетом значительного сходства клинических проявлений синдрома Шаафа–Янга с таковыми синдрома Прадера–Вилли изложены критерии их дифференциальной диагностики, использование которых поможет оптимизировать процесс молекулярно‑генетического анализа, направленного на поиск этиологического фактора.

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