Analysis of the Phenotypes in the Rett Networked Database
Table 1
MECP2 patients classified as classic or atypical RTT according to the mutation types reported in RND (total number of patients 949).
Mutation type
Total (%) ()
Classic RTT (%) ()
Atypical RTT (%) ()
value classic vs. atypical RTT
p.Arg106Trp
31 (3.3)
26 (83.9)
5 (16.1)
0.894
p.Arg133Cys
62 (6.5)
37 (59.7)
25 (40.3)
<0.0001
p.Thr158Met
102 (10.8)
91 (89.2)
11 (10.8)
0.182
p.Arg168
80 (8.4)
74 (92.5)
6 (7.5)
0.043
p.Arg255
106 (11.2)
96 (90.6)
10 (9.4)
0.076
p.Arg270
62 (6.5)
57 (91.9)
5 (8.1)
0.102
p.Arg294
63 (6.6)
59 (93.7)
4 (6.3)
0.041
p.Arg306Cys
67 (7.1)
58 (86.6)
9 (13.4)
0.663
C-Terminal deletion
101 (10.6)
78 (77.2)
23 (22.8)
0.027
Early truncating
93 (9.8)
80 (86)
13 (14)
0.713
Large deletion
72 (7.6)
65 (90.3)
7 (9.7)
0.173
Other
110 (11.6)
83 (75.4)
27 (24.5)
0.004
N: number of cases for which the corresponding item is present; percentage is provided in brackets; the value of significance is provided for comparison.
