Table 5.
MECP2 Mutations in classic and atypical RTT groups
|
Mutation |
Classic Rett syndrome |
Atypical Rett syndrome |
|
|---|---|---|---|
| % ( N ) | Better function % ( N ) | Poorer function % ( N ) | |
| None |
2.2 (12) |
8.0 (4) |
19.5 (9) |
| R133C (397C > T) |
4.6 (25) |
16.0 (8) |
0 (0) |
| R306C (916C > T) |
7.6 (41) |
10.0 (5) |
2.2 (1) |
| R294X (880C > T) |
4.8 (26) |
6.0 (3) |
0 (0) |
| R270X (808C > T) |
5.7 (31) |
2.0 (1) |
8.7 (4) |
| R255X (763C > T) |
11.4 (62) |
2.0 (1) |
17.4 (8) |
| R168X (502C > T) |
12.2 (66) |
0 (0) |
8.7 (4) |
| T158M (473C > T) |
9.7 (53) |
2.0 (1) |
4.4 (2) |
| R106W (316C > T) |
3.0 (16) |
0 (0) |
6.5 (3) |
| 3′ Truncations |
8.7 (47) |
26.0 (13) |
13.0 (6) |
| Large deletions |
8.8 (48) |
4.0 (2) |
8.7 (4) |
| Other point mutations |
11.6 (63) |
20.0 (10) |
6.5 (3) |
| Insertions/deletions |
7.8 (42) |
2.0 (1) |
4.4 (2) |
| Exon 1 |
0.6 (3) |
2.0 (1) |
0 (0) |
| Splice site |
1.3 (7) |
0 (0) |
0 (0) |
| Total | 100 (542) | 100 (50) | 100 (46) |