Table 1.
Clinical characteristics of Rett syndrome (RTT) patients included in this study. AA = aminoacids; CSS = Clinical Severity Score.
| Patient | Mutation Type | AA Change | Age (years) | CSS Total Score |
|---|---|---|---|---|
| 1 | Early Truncating | R168X | 6 | 35 |
| 2 | Early Truncating | K144fs | 22 | 37 |
| 3 | Deletion | c.806delG | 11 | 15 |
| 4 | Missense | R133C | 30 | 9 |
| 5 | Missense | D156E | 8 | 26 |
| 6 | Early Truncating | R270X | 6 | 25 |
| 7 | Early Truncating | R255X | 29 | 12 |
| 8 | Missense | T158M | 12 | 14 |
| 9 | Missense | T158M | 24 | 31 |
| 10 | Large Deletion | 22 | 33 | |
| 11 | Early Truncating | R270X | 14 | 22 |
| 12 | Missense | R106C | 9 | 19 |