Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the  NR2F1  gene

E. L. Dadali; Дадали Е. Л.; A. O. Borovikov; Боровиков А. О.; O. A. Shchagina; Щагина О. А.; O. L. Mironovich; Миронович О. Л.

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

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene

Authors: Dadali E.L.¹, Borovikov A.O.¹, Shchagina O.A.¹, Mironovich O.L.¹
Affiliations:
1. Research Centre for Medical Genetics
Issue: Vol 10, No 4 (2020)
Pages: 38-42
Section: CLINICAL DISCUSSION
Published: 29.12.2020
URL: https://nmb.abvpress.ru/jour/article/view/406
DOI: https://doi.org/10.17650/2222-8721-2020-10-4-38-42
ID: 406

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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.

Keywords

Bosch–Boonstra–Schaaf syndrome, whole-exome sequencing, NR2F1

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Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene

Full Text

Abstract

Keywords

About the authors

E. L. Dadali

A. O. Borovikov

O. A. Shchagina

O. L. Mironovich

References

Supplementary files