NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome: As the homology between human and mouse NR2F1 is very high – especially in the DNA-binding domain, with 100% amino acid sequence homology (Bertacchi et al., 2019b; Qiu et al., 1995) – their functions and targets are likely to be conserved in both species, strongly supporting a major role of mitochondrial dysfunction in the BBSOAS neuropathology.