Mutations of the MECP2 gene in patients with RTT and infantile autism
| Patient | Diagnosis | Mutation type | Exon/IVS | Domain affected | Nucleotide change | Amino acid change | CpG hotspot | X chromosome inactivation | Reference |
| CG1295 | RTT | Missense | 2 | MBD | 390C→T | R106W | + | 66:34 | 7,8 |
| CMC52 | RTT | Nonsense | 3 | TRD | 576C→T | R168X | + | 79:21 | 7,8 |
| PWH23 | RTT | Nonsense | 3 | TRD | 954C→T | R294X | + | Not informative | 14 |
| PMH65 | RTT | Deletion | 3 | Poly-Pro domain | 1231del41 | P389X | − | Not informative | This report |
| PWH44 | RTT | Indel | 3 | TRD | 824delCins11 | P261X | − | 73:27 | This report |
| PWH24 | RTT | Indel | 3 | Poly-Pro & His domains | 1118del131insTG | [E348V, S349-P391del43] | − | 50:50 | This report |
| PWHA34 | Infantile autism | Splicing | IVS2 | Donor splice junction | IVS+2delTAAG | Unknown | − | Not informative | This report |