Mutations of the MECP2 gene in girls with Rett syndrome
| Point mutations in the MBD | Point mutations in the TRD | ||
| Total different | 17 | Total different | 13 |
| Missense | 16 | Missense | 8 |
| Nonsense | 1 | Nonsense | 5 |
| Total number | 71 | Total number | 96 |
| Missense | 69 | Missense | 26 |
| Nonsense | 2 | Nonsense | 70 |
| Loss of cytosine | 65/71 (92%) | Loss of cytosine | 93/96 (97%) |
| C>T | 48/71 (68%) | C>T | 86/96 (90%) |