MECP2 mutations identified in patients 1–5
| Patient | Exon | Nucleotide change | Mutation | Mutation type | Domain |
| 1 | 3 | 44 base pair deletion | 1230del44 | Frameshift | TRD |
| 2 | 2 | 376 CÙG | P101R | Missense | MBD |
| 3 | 3 | 52 base pair deletion | 1230del52 | Frameshift | TRD |
| 4 | 3 | 497 CÙA | Y141X | Nonsense | MBD |
| 5 | 2 | 2 base pair deletion | 241del2 | Frameshift | MBD |
MBD: methyl-cytosine binding domain (85 amino acids).
TRD: transcriptional repression domain (104 amino acids).