Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
Evidence-based neurology checklist on bosch-boonstra-schaaf optic atrophy syndrome (bbsoas): Genetics and pathology This is caused by mutations in the NR2F1 gene The gene encodes COUP transcription factor 1 protein (COUP-TF1) The mutation causes deficiency of mitochondrial complex IV deficiency…
Genetics and pathology
- This is caused by mutations in the NR2F1 gene
- The gene encodes COUP transcription factor 1 protein (COUP-TF1)
- The mutation causes deficiency of mitochondrial complex IV deficiency
- The transmission is autosomal dominant
Clinical features
Magnetic resonance imaging (MRI) brain: features
References
- Martín-Hernández E, Rodríguez-García ME, Chen CA, et al F. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. J Hum Genet 2018; 63:525-528.
- Chen CA, Bosch DG, Cho MT, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med 2016; 18:1143-1150.
- Bosch DG, Boonstra FN, Gonzaga-Jauregui C, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 2014; 94:303-309.
