Characteristics of study participants with typical and atypical RTT
| Typical Rett syndrome | Atypical Rett syndrome | |||||
|---|---|---|---|---|---|---|
| N | Age at diagnosis | CSS | N | Age at diagnosis | CSS | |
| p.Arg106Trp | 23 | 5.3±4.6 | 24.5±5.8 | 5 | 2.8±1.3 | 25.3±6.8 |
| p.Arg133Cys | 40 | 5.1±4.3 | 18.0±6.2 | 11 | 5.2±2.1 | 13.4±5.7 |
| p.Thr158Met | 91 | 3.2±2.5 | 23.4±6.6 | 4 | 5.9±4.4 | 18.9±5.9 |
| p.Arg168X | 87 | 3.4±4.7 | 25.7±6.7 | 5 | 3.8±2.2 | 31.0±3.6 |
| p.Arg255X | 81 | 3.0±2.5 | 25.2±6.5 | 11 | 6.8±12.8 | 25.2±6.8 |
| p.Arg270X | 48 | 4.0±5.6 | 25.6±7.9 | 6 | 2.5±1.4 | 26.8±4.2 |
| p.Arg294X | 54 | 5.0±3.5 | 19.1±5.9 | 6 | 5.5±2.3 | 14.0±8.6 |
| p.Arg306Cys | 50 | 4.5±4.9 | 19.0±5.5 | 8 | 4.2±0.7 | 12.1±7.1 |
| 3′ truncation | 74 | 4.6±4.2 | 21.3±6.3 | 26 | 5.7±4.3 | 16.0±8.0 |
| Deletion | 47 | 3±2.4 | 25.1±7.0 | 2 | 2.1±0 | 17.6±2.8 |
| Exon 1 | 4 | 5.1±4.2 | 17.0±8.3 | 1 | 6.08 | 9.8±4.1 |
| Insertion | 18 | 2.6±1.6 | 25.2±7.9 | 5 | 7.3±11.0 | 33.5±6.4 |
| Large deletions | 74 | 4.5±6.6 | 25.3±6.8 | 8 | 7.3±12.1 | 28.3±7.6 |
| Other point | 94 | 4.3±5.3 | 21.7±7.0 | 16 | 4.7±2.5 | 20.1±8.7 |
| Splice sites | 8 | 4.0±2.9 | 24.5±5.4 | 0 | – | – |
| No mutations | 29 | 7.2±5.1 | 23.1±8.8 | 35 | 7.6±6.4 | 25.4±7.7 |
For each diagnosis, the number of individuals (N), age at diagnosis and CSS for each mutation group. Data are presented as average±SD. All significant differences between CSS for typical RTT are listed in figure 1A and for atypical RTT are listed in figure 3.
CSS, clinical severity score; RTT, Rett syndrome.