Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press40610.17650/2222-8721-2020-10-4-38-42CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРClinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 geneКлинико-генетические характеристики синдрома Бош–Бунстра–Шаафа, обусловленного вновь выявленными мутациями в гене NR2F1https://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115522

Елена Леонидовна Дадали

115478 Москва, ул. Москворечье, 1

genclinic@yandex.ruhttps://orcid.org/0000-0001-5871-8005BorovikovA. O.БоровиковА. О.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115478 Москва, ул. Москворечье, 1

https://orcid.org/0000-0003-4905-1303ShchaginaO. A.ЩагинаО. А.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115478 Москва, ул. Москворечье, 1

https://orcid.org/0000-0003-0351-1271MironovichO. L.МироновичО. Л.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115478 Москва, ул. Москворечье, 1

Research Centre for Medical GeneticsФГБУ «Медико-генетический центр им. академика Н. П. Бочкова»2912202010438422912202029122020Copyright ©; 2020, Dadali E.L., Borovikov A.O., Shchagina O.A., Mironovich O.L.Copyright ©; 2020, Дадали Е.Л., Боровиков А.О., Щагина О.А., Миронович О.Л.2020Dadali E.L., Borovikov A.O., Shchagina O.A., Mironovich O.L.Дадали Е.Л., Боровиков А.О., Щагина О.А., Миронович О.Л.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/406

Bosch–Boonstra–Schaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene. Its common features include optic atrophy and / or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, hypotonia, and thinning of the corpus callosum. We report of the clinical and genetic characteristics of two patients with Bosch-Boonstra-Schaaf syndrome with newly detected of the missense mutations с.329T>C (p.Phe110Ser) and с.413G>A (p.Cys138Tyr) in the gene NR2F1. The existence of a polymorphism of the clinical manifestations of the syndrome has been shown, and the necessity of using exome sequencing in the diagnosis of neuro-ophthalmic diseases has been substantiated.

Синдром Бош–Бунстра–Шаафа – аутосомно-доминантное заболевание, обусловленное мутациями в гене NR2F1. Клинические проявления характеризуются сочетанием атрофии и / или гипоплазии зрительных нервов, задержкой моторного развития, интеллектуальным дефицитом, судорогами, гипотонией и гипоплазией мозолистого тела. В статье представлено описание клинико-генетических характеристик 2 больных с синдромом Бош–Бунстра–Шаафа с вновь выявленными миссенс-мутациями с.329Т>С (p.Phe110Ser) и с.413G>A (p.Cys138Tyr) в гене NR2F1. Показано существование полиморфизма клинических проявлений синдрома и обоснована необходимость использования секвенирования экзома в диагностике нейроофтальмологических заболеваний.

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