Table 2 Overview of clinical features of previously published patients with GRIA3 deletion/duplication and present patients with GRIA3 mutation
Gecz et al. [1999] [31] Female patient | Wu et al. [2007] [34] Male patients | Bonnet et al. [2009] [36] Male/male patient | Chiyonobu et al. [2007] [35] Male patient | D174 Male patient (III-7) | D174 Male patient (III-8) | D174 Male patient (II-5) | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
n = 1 | n = 3 | n = 2 | n = 4 | n = 2 | n = 2 | n = 2 | n = 1 | ||||
Type of change | Translocation t(X;12) (q24;q15) | Deletion | Missense variant p.G833R | Missense variant p.R631S | Missense variant p.M706T | Missense variant p.R450Q | Partial duplication of GRIA3 | Partial duplication of GRIA3 | Missense variant p.G630R | Missense variant p.G630R | Missense variant p.G630R |
Feature | |||||||||||
Intellectual disability | + | + | + | + | + | - | +/+ | + | + | + | + |
Mild | - | - | - | - | + | - | - | - | - | - | - |
Moderate | + | + | + | + | + | - | - | - | - | - | - |
Severe | - | - | - | - | - | - | +/+ | + | + | + | + |
Autistic features | ND | ND | + | ND | ND | ND | +/ND | + | + | - | + |
Behaviour troubles | + | ND | + | ND | ND | ND | +/+ | + | + | + | + |
Self injury | ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Aggressive outbursts | ND | ND | ND | ND | ND | ND | ND | ND | + | + | - |
Dysmorphic features | ND | ND | ND | ND | ND | ND | +/+ | + | + | + | + |
Brachycephaly | ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Macrocephaly | ND | ND | + | ND | ND | ND | ND | ND | - | - | - |
Deep set eyes | ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Aesthenic habitus | ND | ND | ND | + | + | ND | ND | ND | - | - | - |
Myclonic jerks | ND | ND | + | ND | ND | ND | ND | ND | ND | ND | ND |
Hyporeflexia | ND | + | ND | ND | + | ND | ND | ND | ND | ND | ND |
Prominent supraorbital ridges | ND | ND | ND | ND | ND | ND | ND | ND | + | + | + |
Short stature | ND | ND | ND | ND | ND | ND | -/- | + | + | + | + |
Epilepsy | + | ND | ND | ND | ND | ND | -/- | - | + | + | + |
Inguinal hernia | - | ND | ND | ND | ND | ND | +/- | + | - | - | - |
Brain MRI abnormalities | ND | ND | ND | ND | ND | ND | -/+ | - | ND | ND | ND |
Bowel occlusions | ND | ND | ND | ND | ND | ND | ND | ND | - | - | + |
Malposition of feet | ND | ND | ND | ND | ND | ND | ND | ND | + | + | - |
Hydronephrosis | ND | ND | ND | ND | ND | ND | ND | ND | + | ND | ND |
Ren arcuatus | ND | ND | ND | ND | ND | ND | ND | ND | + | ND | ND |