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

ConclusionIn summary, we described two monozygotic twins harboring a novel Gly105Ser mutation in NR2F1 DNA binding domain, displaying the classical phenotype of BBSOAS ‐affected patients. Our computational data suggest a dominant negative effect of this newly characterized missense variant. To date, this is the first genetic report analyzing in silico structural consequences of NR2F1 Gly105Ser substitution.

Source: Molecular Genetics & Genomic Medicine - May 14, 2020 Category: Genetics & Stem Cells Authors: Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D ’Elia, Maria Iascone, Giuseppe Damante Tags: CLINICAL REPORT Source Type: research