Open AccessClinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene
Author(s) -
Е. Л. Дадали,
Artem Borovikov,
О. А. Щагина,
О. Л. Миронович
Publication year - 2020
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2020-10-4-38-42
Subject(s) - atrophy , autism spectrum disorder , missense mutation , corpus callosum , medicine , hypotonia , genetic heterogeneity , genetics , pathology , mutation , pediatrics , gene , biology , autism , psychiatry , phenotype
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.