estradiol supplementation

Figure S1. Growth chart of the patient. Actual height of the patient is plotted against the growth curve for Japanese girls (the mean, ± 1.0 SD and ± 2.0 SD).

Series10

5

10

15

20

25

Series10

1

2

3

4

5

6

7

8

9 p = 1.1×10-

4

p = 2.0×10-

7

Rela

tive f

old

induct

ion

Rela

tive f

old

induct

ion

Figure S2. In vitro reporter assay using a luciferase vector containing the MITF promoter. The SOX10 expression vectors were transfected with (right panel) or without (left panel) the PAX3 expression vector. The results are expressed as the mean ± one standard deviation. The p.Pro169fsX117 mutant (MT) barely transactivated the MITF promoter and exerted no dominant-negative effects on the wildtype (WT) SOX10 protein. As controls for the expression vectors, an empty counterpart vector was transfected.

PAX3 (+)PAX3 (-)

p = 1.1×10-

13

p = 3.2×10-

7

p = 0.97

p = 0.06

p = 1.2×10-

7

p = 6.0×10-

8

p = 7.0×10-7

p = 0.02

p = 0.20

p = 0.78

WT (ng/well)

MT (ng/well)

0 20 20 10 0

0 0 20 10 20

WT (ng/well)

MT (ng/well)

0 20 20 10 0

0 0 20 10 20