Table 1 Clinical data from subjects with mutations in GRIN2B

From: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

  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
  1. +, present; −, absent; MR, mental retardation, NA, not analyzed.
  2. aAge at last follow up in years.