This website provides information on individuals with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, OMIM # 615722), including clinical data, molecular data, management and research options.
BSSOAS is caused by mutations in or deletions of the NR2F1 gene. It is a multisystem disorder characterized by developmental delay, intellectual disability, autism spectrum disorder, muscle weakness (hypotonia), seizures, thinning of the corpus callosum, vision disorders (optic atrophy and cerebral visual impairment) and hearing disorder. Not all individuals with a mutation in the NR2F1-gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with mutations in the NR2F1 gene.
Daniëlle G. M. Bosch, MD, PhD, Clinical geneticist in training, University Medical Center Utrecht, Genetics Department, Utrecht, The Netherlands, D.G.M.Boschfirstname.lastname@example.org
Christian P. Schaaf, MD, PhD, FACMG, University of Cologne, Institute of Human Genetics, Cologne, Germany, Christian.email@example.com