AI Article Synopsis
- Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare genetic disorder that presents with symptoms like intellectual disability, visual impairment, mild facial differences, hypotonia, and hearing issues due to mutations in the NR2F1 gene.
- A study reports on a brother and sister with a specific harmful mutation in the NR2F1 gene, showcasing a mild form of the syndrome with symptoms like optic atrophy and slightly impaired intellectual abilities.
- The mutation was absent in their parents' genomes, suggesting a case of gonadal mosaicism, a phenomenon not previously documented in cases of BBSOAS.
Article Abstract
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS, OMIM 615722) is a rare autosomal dominant disorder characterized by intellectual disability, optic atrophy, cortical visual impairment, mild facial dysmorphism, hypotonia, hearing problems, attention deficit and a thin corpus callosum. The gene underlying this disorder is NR2F1 located on chromosome 5q15 which encodes for a nuclear receptor protein. Mutations and deletions have been identified in patients. Here we report on a brother and a sister carrying a pathogenic nonsense NR2F1 variant. The patients have a mild phenotype showing optic atrophy, mild intellectual disability, dysmorphic features and thin corpus callosum. This correlates with previously described milder phenotypes in patients with mutations in this domain. The variant was not identified in the parental genome indicating most likely a gonadal mosaicism. Gonadal mosaicism has not yet been reported in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
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| http://dx.doi.org/10.1016/j.ejmg.2023.104729 | DOI Listing |
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