Diapositive 1

1
E-Figure 2 Relationship between RTT phenotype
and MECP2 genotype. Clinical severity in three
clinical features (A, ability to walk B,
psychomotor development during the first year
and C, onset of seizures) depends on specific
MECP2 mutations. There is an overall difference
in the severity of these clinical manifestations
(A, p0.01 B, p0.03 C, p0.03) between
different MECP2 mutations. NS, Non-sense. MS,
Missense. LT, Large truncating. ID, Interdomain.
B. Psychomotor development during the first year
A. Ability to walk
Scale of severity
Scale of severity
0
1
2
0
1
2
Large deletion (n4)
Large deletion (n4)
R255X (n6)
R255X (n5)
R270X (n9)
R270X (n9)
R294X (n6)
R294X (n6)
R168X (n9)
R168X (n9)
Other NS mutations (n4)
Other NS mutations (n4)
LT mutations (n9)
LT mutations (n9)
R306C (n8)
R306C (n8)
R133C (n2)
R133C (n2)
T158M (n7)
T158M (n7)
Other MS mutations (n12)
Other MS mutations (n12)
0
10
20
30
40
50
60
70
80
90
100
0
10
20
30
40
50
60
70
80
90
100
Percent
Percent
C. Onset of seizures
Scale of severity
0
1
2
Large deletion (n5)
R255X (n6)
R270X (n9)
R294X (n6)
R168X (n6)
Other NS mutations (n4)
LT mutations (n11)
R306C (n8)
R133C (n2)
T158M (n7)
Other MS mutations (n4)
0
10
20
30
40
50
60
70
80
90
100
Percent