Table 5 MECP2 Mutations in classic and atypical RTT groups
From: Developmental delay in Rett syndrome: data from the natural history study
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) |