Table 1.
Clinical data in individuals withde novo GRIN2Bmutations
| Individual 1 (subject 1, Endele et al., 2010) | Individual 2 (subject 2, Endele et al., 2010) | Individual 3 (subject 5, Endele et al., 2010) | Individual 4 (subject 9, Endele et al., 2010) | Individual 5 (this report) | |
|---|---|---|---|---|---|
|
Mutation |
Translocation with breakpoint in GRIN2B |
Translocation with breakpoint in GRIN2B |
c.2044C > T (p.R682C) |
c.803_804delCA (p.T268SfsX15) |
c.1906G > C (p.A636P) |
|
Ethnic origin |
German |
German |
German |
German |
German |
|
Sex |
Male |
Male |
Male |
Female |
Female |
|
Gestational weeks at birth |
41 |
38 |
40 |
39 |
40 |
|
Birth weight [g(SD)] |
3535 (mean) |
3390 (mean) |
4000 (0.9) |
3720 (0.9) |
3940 (1.1) |
|
Birth length [cm(SD)] |
52 (−0.4) |
52 (mean) |
54 (−0.7) |
55 (1.8) |
53 (0.6) |
|
OFC at birth [cm(SD)] |
34 (−1.6) |
32.5 (−2.1) |
34 (−1.2) |
34 (−0.5) |
not reported |
|
Age at last physical examination [years] |
5 3/12 |
12 |
13 |
13 |
1 11/12 |
|
Age at behavioral assessment |
6 8/12 |
14 |
14 6/12 |
14 8/12 |
3 10/12 |
|
Height [cm(SD)] |
123 (1.8) |
150 (mean) |
154 (−0.1) |
150 (−1.0) |
87 (−0.2) |
|
Weight [kg(SD)] |
23 (1.8) |
36 (−1.5) |
53 (0.8) |
41 (2.0) |
10 (−2.3) |
|
OFC [cm(SD)] |
50 (−1.0) |
50 (−2.4) |
54 (−0.9) |
54.5 (0.2) |
47 (−0.8) |
|
Intellectual disability |
Mild |
Severe |
Mild |
Moderate |
Mild |
|
Walking age [months] |
23 |
36 |
20 |
24 |
25 |
|
First words [months] |
12 |
- |
18 |
28 |
10 |
|
Seizures |
- |
- |
- |
- |
- |
|
EEG |
Left-sided sharp wave complexes |
Slow dysrhythmia, occipital abortive sharp waves |
Normal |
Normal |
Sharp wave complexes temporoparietal |
|
Cranial MRI |
Normal |
Hydrocephalus externus |
Normal |
Not performed |
Normal |
|
Behavior: |
|
|
|
|
|
|
-hyperactivity |
+ |
+ |
/ |
+ |
+ |
|
-short attention span |
+ |
+ |
+ |
+ |
+ |
|
-sleep disturbance |
+ |
+ |
/ |
+ |
+ |
|
-aggressiveness |
+ |
+ |
+ |
/ |
- |
|
-stereotypies |
+ |
+ |
+ |
+ |
- |
|
-friendliness |
+ |
+ |
+ |
+ |
+ |
| Others | / | Cryptorchidism, choanal atresia, inguinal hernia | / | / | / |