Table 1 Clinical data in individuals with de novo GRIN2B mutations
From: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
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 | / | / | / |