Table 1 of
Osborne, Mol Vis 2011; 17:3097-3106. Table 1 of
Osborne, Mol Vis 2011; 17:3097-3106.
Table 1. Summary of cases and gene change.
| Case | SOX2 gene change | Reference |
|---|---|---|
| 1 | Partial gene deletion | [10] |
| 2 | Whole gene deletion | [10] |
| 3 | Whole gene deletion | [10] |
| 4 | Whole gene deletion | [10] |
| 5 | Whole gene deletion | [10] |
| 6 | Whole gene deletion | [10] |
| 7 | Whole gene deletion | [10] |
| 8 | Whole gene deletion | [10] |
| 9 | c. 529C>T; p.Q177X | [5,6] |
| 10 | c.53 C>A mutation, p.S18X | [10] |
| 11 | c. 248C>A, p.S83X | [5,6] |
| 12 | c.70del20, p.N24fs88X | [10] |
| 13 | c.480C>G, p.Y160X | [10] |
| 14 | c.285dupG, p.K95fs109X | [10] |
| 15 | c. 529C>T; p.Q177X | [5,6] |
| 16 | c.290T>C; p.L97P | [6] |
| 17 | c.70del20 p.N24fs88X | [10] |
| 18 | c.188delA p.N63fs101X | [10] |
| 19 | c.479delA, p.S159fs163X | This study; same case likely published [22] |
| 20 | c.582–592dup, (p.His198Argfs*9) | This study |
| 21 | c.143–144TC>AA, (p.Phe48*) | This study |
| 22 | c.70del20 p.N24fs88X | This study |
| 23 | c.542delC, (p.Pro181Argfs*22) | This study |