Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

摘要

The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy. This disorder is caused by loss‐of‐function alterations of (i.e., either whole gene deletions or single nucleotide variants) and, to date, 40 patients have been identified with deletions or mutations in this gene. Here we describe two monozygotic twins harboring a de novo missense variant in the DNA‐binding domain of (c.313G>A, p.Gly105Ser), with well‐characterized features associated to BBSOAS.