Table 22 MECP2 mutations and clinical forms
Mutations | Classical | Atypical | Tot | % | |
|---|---|---|---|---|---|
Z-RTT | ARTT-NOS | ||||
Substitutions | |||||
Non sense | 29 | 1 | 1 | 31 | 26 % |
Early truncating | 22 | – | 1 | 23 | |
Late truncating | 7 | 1 | – | 8 | |
Missense | 29 | 9 | 4 | 42 | 36 % |
Large Deletions | 17 | – | – | 17 | 14 % |
Frameshift | 19 | 8 | 1 | 28 | 24 |
C terminal deletions | 12 | 7 | – | 19 | |
94 | 18 | 6 | 118 | 100 % | |