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 |
ND→No data, +→clinical trait present, -→clinical trait absent.