Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene
https://doi.org/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.
Supporting agencies: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation for RCMG, supported in part by RFBR (project No. 17-01-12345).
About the Authors
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
1 Moskvorech’e St., Moscow 115522
Russian Federation
1 Moskvorech’e St., Moscow 115522
A. O. Borovikov
Research Centre for Medical Genetics
Russian Federation
1 Moskvorech’e St., Moscow 115522
Russian Federation
1 Moskvorech’e St., Moscow 115522
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
1 Moskvorech’e St., Moscow 115522
Russian Federation
1 Moskvorech’e St., Moscow 115522
O. L. Mironovich
Research Centre for Medical Genetics
Russian Federation
1 Moskvorech’e St., Moscow 115522
Russian Federation
1 Moskvorech’e St., Moscow 115522
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Review
For citations:
Dadali E.L., Borovikov A.O., Shchagina O.A., Mironovich O.L. Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene. Neuromuscular Diseases. 2020;10(4):38-42. (In Russ.) https://doi.org/10.17650/2222-8721-2020-10-4-38-42
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