TABLE 1.
Known alteration affecting NR2F1 and phenotypic features of patients with Bosch–Boonstra–Schaaf optic atrophy syndrome
| cDNA variation | Protein variation | Domain | Phenotype |
|---|---|---|---|
| c.2T>G | p.? | Affects start codon | Optic nerve hypoplasia/ONA |
| c.2T>C | p.? | Affects start codon | CVI/ONA, hypotonia |
| c.2_4delTGGinsG | p.? | — | ONA, seizures, hypotonia |
| c.82C>T | p.Q28* | — | ASD, ONA, motor skills impairment |
| c.103_113delinsC | G35Rfs∗8 | — | ONA, seizures, hypotonia |
| c.257G>T | C86F | DBD | Mild optic nerve hypoplasia, seizures, hypotonia |
| c.286A>G | K96E | DBD | ONA, hypotonia, mild ID |
| c.291delC | Y98Tfs∗2 | DBD | ONA, seizures, hypotonia |
| c.328_330delTTC | F110del | DBD | ONA, hypotonia |
| c.335G>A | R112K | DBD | Pale optic discs, keratoconus, strabismus, seizures |
| c.339C>A | S113R | DBD | CVI, strabismus |
| c.344G>C | R115P | DBD | CVI, strabismus, latent nystagmus |
| c.382T>C | C128R | DBD | ONA, seizures, hypotonia |
| c.403C>A | R135S | DBD | CVI, seizures, hypotonia |
| c.413G>A | C138Y | DBD | ONA, nystagmus |
| c.425G>T | R142L | DBD | ONA, seizures, hypotonia |
| c.436T>C | C146R | DBD | ONA |
| c.463G>A | R155T | — | Hypotonia |
| c.513C>G | Y171* | — | Low vision, nystagmus, mild ID |
| c.755T>C | L252P | LBD | CVI |
| c.1103G>A | G368D | LBD | Seizures |
| c.1115T>C | L372P | LBD | Hypotonia |
| 582 kb del | — | — | ONA, hypotonia |
| 0.2 Mb del | — | — | ONA, hypotonia, strabismus |
| 0.83 Mb del | — | — | ONA |
| 0.9 Mb del | — | — | ONA, hypotonia |
| 1.2 Mb del | — | — | ONA |
| 2.85 Mb del | — | — | CVI |
| 5.0 Mb del | — | — | Hypotonia |
Abbreviations: ASD, autism spectrum disorder; CVI, cerebral visual impairment; DBD, DNA‐binding domain; ID, intellectual disability.; LBD, ligand‐binding domain; ONA, optic nerve atrophy.