Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the &lt;i&gt;NR2F1&lt;/i&gt; gene

E L Dadali,O A Shchagina,O L Mironovich,A O Borovikov

doi:10.17650/2222-8721-2020-10-4-38-42

Abstract

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.

Highlights

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene E
Bosch–Boonstra–Schaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene
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

Summary

Introduction

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene E. Клинические проявления характеризуются сочетанием атрофии / гипоплазии зрительных нервов, задержки психоречевого развития и различной очаговой неврологической симптоматики. Впервые описали 3 случая сочетания гипоплазии и атрофии зрительных нервов и интеллектуального дефицита с наличием миссенс-мутаций в гене NR2F1, подтвердив тем самым этиологическую роль гена в развитии заболевания [2].

Results

Conclusion