Patients: |
1 |
2 |
3* |
4* |
5 |
6 |
7 |
8 |
9 |
10* |
11* |
12 |
13 |
Total |
Sex |
F |
F |
F |
F |
F |
F |
M |
M |
F |
F |
F |
M |
M |
|
Age at diagnosis |
2 y |
3 y |
23 y |
21 y |
1 y |
18 y |
4 y |
1 y |
1 y |
23 y |
26 y |
6 y |
2 y |
|
Present age |
9 y |
7 y |
28 y |
25 y |
6 y |
23 y |
10 y |
7 y |
7 y |
25 y |
28 y |
8 y |
4 y |
|
PMM activity
(control range)** |
0.17
(0.96-3.56) |
na |
1.93
(1.20-3.79) |
0.57
(1.20-3.79) |
na |
na |
0.08
(2.09-5.43) |
0.16
(2.09-5.43) |
na |
na |
na |
na |
na |
|
PMM2 mutations |
T226S
R141H G79V |
T237M
R141H |
T226S
R141H |
T226S
R141H |
R123X
D223E |
F119L
R141H |
T226S
R21W |
D65Y
R141H |
F157S
R162W |
T237M
R141H |
T237M
R141H |
T237MRR141H |
T237M
R141H |
|
Neurological signs |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Developmental delay/ MR |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
13/13 |
Ataxia |
+ |
+ |
+ |
+ |
- |
+ |
+ |
- |
+ |
+ |
- |
+ |
+ |
10/13 |
Hypotonia |
- |
+ |
- |
- |
+ |
- |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
9/13 |
Hyporeflexia |
+ |
- |
- |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
- |
- |
9/13 |
Strabismus |
- |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
12/13 |
Cerebellar atrophy |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
- |
12/13 |
Other clinical signs |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Short stature |
+ |
- |
+ |
- |
+ |
+ |
na |
- |
+ |
+ |
na |
na |
+ |
7/10 |
Facial dysmorphism |
+ |
- |
+ |
+ |
+ |
+ |
- |
+ |
+ |
+ |
+ |
- |
+ |
10/13 |
Laboratory data |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Coagulopathy |
+ |
+ |
+ |
- |
+ |
+ |
+ |
na |
+ |
+ |
+ |
+ |
na |
10/11 |
Elevated FSH/LH |
+ |
+ |
- |
+ |
na |
+ |
- |
na |
+ |
+ |
+ |
- |
na |
7/10 |
|
| F: female; M: male; MR: mental retardation; y: year; +: present; -: absent; na: information not available. * Patients 3 and 4, and patients 10 and 11 represent pairs of sibs;
** PMM activities are expressed in mU/mg protein. |
| Table 1: Main clinical findings in PMM2-CDG patients. |