ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet13169ometendo-13169Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCASE REPORTИдентификация новых патогенных вариантов в гене GNAS у детей с морбидным ожирением и псевдогипопаратиреозомIdentification of novel pathogenic variants in the GNAS gene in children with morbid obesity and pseudohypoparathyroidismhttps://orcid.org/0009-0000-2932-0399КопытинаД. А.KopytinaD. A.

Копытина Дарья Александровна

117036, Москва, ул. Дм. Ульянова, д. 11

Daria A. Kopytina, MD

11 Dm. Ulyanova street, 117036 Moscow

Kopytina.Daria@endocrincentr.ruhttps://orcid.org/0000-0002-9299-1053ВасюковаО. В.VasyukovaO. V.

Васюкова Ольга Владимировна, к.м.н. 

117036, Москва, ул. Дм. Ульянова, д. 11

Olga V. Vasyukova, MD

11 Dm. Ulyanova street, 117036 Moscow

Vasukova.Olga@endocrincentr.ruhttps://orcid.org/0000-0002-9789-9555СалаховР. Р.SalakhovR. R.

Салахов Рамиль Ринатович, к.м.н.

117036, Москва, ул. Дм. Ульянова, д. 11

Ramil R. Salakhov, MD

11 Dm. Ulyanova street, 117036 Moscow

salakhov.ramil@endocrincentr.ruhttps://orcid.org/0000-0001-9834-727XОкороковП. Л.OkorokovP. L.

Окороков Павел Леонидович, к.м.н.

117036, Москва, ул. Дм. Ульянова, д. 11

Pavel L. Okorokov, MD

11 Dm. Ulyanova street, 117036 Moscow

pokorokov@gmail.comhttps://orcid.org/0009-0009-4999-7327КопытинаЕ. В.KopytinaE. V.

Копытина Елена Владимировна, к.м.н.

Elena V. Kopytina, MD

helen_bob@mail.ruhttps://orcid.org/0000-0001-6429-7198НагаеваЕ. В.NagaevaE. V.

Нагаева Елена Витальевна, д.м.н.

117036, Москва, ул. Дм. Ульянова, д. 11

Elena V. Nagaeva, MD, PhD

11 Dm. Ulyanova street, 117036 Moscow

nagaeva.elena@endocrincentr.ruhttps://orcid.org/0000-0002-8643-850XХусаиноваР. И.KhusainovaR. I.

 Хусаинова Рита Игоревна, д.б.н.

117036, Москва, ул. Дм. Ульянова, д. 11

Rita I. Khusainova, PhD in biology

11 Dm. Ulyanova street, 117036 Moscow

khusainova.rita@endocrincentr.ruhttps://orcid.org/0000-0002-7045-8215МинниахметовИ. Р.MinniakhmetovI. R.

Минниахметов Илдар Рамилевич, к.б.н.

117036, Москва, ул. Дм. Ульянова, д. 11

Ildar R. Minniakhmetov, PhD in biology

11 Dm. Ulyanova street, 117036 Moscow

minniakhmetov@gmail.comПоповС. В.PopovS. V.

Попов Сергей Владимирович

117036, Москва, ул. Дм. Ульянова, д. 11

Sergey V. Popov

11 Dm. Ulyanova street, 117036 Moscow

popov.sergey@endocrincentr.ruhttps://orcid.org/0000-0001-9621-5732БезлепкинаО. Б.BezlepkinaO. B.

Безлепкина Ольга Борисовна, д.м.н., профессор

117036, Москва, ул. Дм. Ульянова, д. 11

Olga B. Bezlepkina, MD, PhD, Professor

11 Dm. Ulyanova street, 117036 Moscow

olgabezlepkina@mail.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваН. Г.MokryshevaN. G.

Мокрышева Наталья Георгиевна, д.м.н., профессор, член-корреспондент РАН

117036, Москва, ул. Дм. Ульянова, д. 11

ResearcherID: AAY-3761-2020

 

Scopus Author ID: 35269746000

Natalia G. Mokrysheva, MD, PhD, Professor

11 Dm. Ulyanova street, 117036 Moscow

ResearcherID: AAY-3761-2020

 

Scopus Author ID: 35269746000

mokrisheva.natalia@endocrincentr.ruГНЦ ФГБУ Национальный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian FederationГУЗ “Липецкая городская детская больница”Россия2Lipetsk City Children’s HospitalRussian FederationГНЦ ФГБУ Национальный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation202402102024214412424Copyright © Копытина Д.А., Васюкова О.В., Салахов Р.Р., Окороков П.Л., Копытина Е.В., Нагаева Е.В., Хусаинова Р.И., Минниахметов И.Р., Попов С.В., Безлепкина О.Б., Мокрышева Н.Г., 20252025Копытина Д.А., Васюкова О.В., Салахов Р.Р., Окороков П.Л., Копытина Е.В., Нагаева Е.В., Хусаинова Р.И., Минниахметов И.Р., Попов С.В., Безлепкина О.Б., Мокрышева Н.Г.Kopytina D.A., Vasyukova O.V., Salakhov R.R., Okorokov P.L., Kopytina E.V., Nagaeva E.V., Khusainova R.I., Minniakhmetov I.R., Popov S.V., Bezlepkina O.B., Mokrysheva N.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.omet-endojournals.ru/jour/article/view/13169

Псевдогипопаратиреоз (ПГП) — клинически гетерогенная группа редких наследственных заболеваний костной системы, характеризующихся резистентностью органов-мишеней к действию паратгормона (ПТГ) в результате эпигенетического нарушения.В данной статье приводится описание пациентов с фенотипом псевдогипопаратиреоза 1а типа, у которых идентифицированы два ранее неописанных варианта в гене GNAS: NM_000516.7(GNAS):c.586-18_591del, захватывающий участок 7 интрона, акцепторный сайт сплайсинга 8 экзона и участок 8 экзона, приводящий к делеции 24 нуклеотидов, и NM_000516.7(GNAS):c.201del p.Phe68LeufsTer32, приводящий к сдвигу рамки считывания и появлению преждевременного терминирующего кодона у двух неродственных детей с прогрессирующей избыточной массой тела с рождения. Согласно критериям оценки патогенности, оба варианта отнесены к вероятно патогенным

Pseudohypoparathyroidism (PHP) is a clinically heterogeneous group of rare inherited bone diseases characterized by resistance of target organs to the action of parathormone (PTH) as result of an epi/genetic disorder.This article describes patients with the phenotype of pseudohypoparathyroidism type 1a in whom two previously undescribed variants in the GNAS gene were identified: NM_000516.7(GNAS):c.586-18_591del, which captures intron 7, exon 8 acceptor splice site and exon 8 splice site resulting in a 24 nucleotide deletion, and NM_000516.7(GNAS):c.201del p.Phe68LeufsTer32 resulting in a reading frame shift and a premature termination codon in two unrelated children with progressive weight gain from birth. According to the pathogenicity evaluation criteria, both variants are categorized as likely pathogenic variants

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