Clinical presentation in the 6/78 patients with a MECP gene mutation
| Patients | Sex | Clinical data | MECP2 mutation | Protein domain | ||||
| Case 1 | F | RTT | 316 C>T | MBD | ||||
| R106W | ||||||||
| Case 2 | F | RTT | 763 C>T | TRD | ||||
| (R255X) | ||||||||
| Case 3 | F | RTT | 763 C>T | TRD | ||||
| (R255X) | ||||||||
| Case 4 | F | RTT | 803delG | TRD | ||||
| Case 5 | F | Progressive encephalopathy of neonatal onset | 808 C>T | TRD | ||||
| (R270X) | ||||||||
| Case 6 | M | Non-progressive encephalopathy of neonatal onset | 1282 G>A | C-ter | ||||
| (G428S) | ||||||||
C-ter: carboxyl-terminal domain.