Table 1 Clinical data from subjects with mutations in GRIN2B
Subject 1 ES06E1083 | Subject 2 ES10E0186 | Subject 4 ES07E0211 | Subject 5 ER14077 | Subject 8 HDMR187 | Subject 9 HDMR179 | |
|---|---|---|---|---|---|---|
GRIN2B mutation | Translocation breakpoint disrupting GRIN2B | Translocation breakpoint disrupting GRIN2B | c.411+1G>A | c.2044C>T (p.R682C) | c.2360-2A>G | c.803_804delCA (p.T268SfsX15) |
Inheritance | De novo | De novo | De novo | De novo | De novo | De novo |
Ethnic origin | Germany | Germany | Germany | Germany | European descent | Germany |
Sex | Male | Male | Male | Male | Female | Female |
Age at last follow upa | 5 | 12 | 10 | 13 | 41 | 13 |
Microcephaly | − | + | − | − | − | − |
Cognitive development | Moderate MR | Severe MR | Moderate MR | Moderate MR | Mild MR | Moderate MR |
Seizures | − | − | − | − | − | − |
EEG anomalies | Left-sided sharp-wave complexes | Irregular slow dysrhythmia, occipital abortive sharp waves | Irregular slow dysrhythmia | − | − | − |
Behavioral anomalies | + | + | + | + | + | + |
MRI scan anomaly | − | + | − | − | NA | NA |
Facial dysmorphism | − | − | − | − | − | − |
Eye anomalies | NA | + | − | − | − | − |
Other abnormalities | − | Choanal atresia, cryptorchidism, inguinal hernia, flat feet | − | − | Hypothyroidism | − |
