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Table 2 Overview of clinical features of previously published patients with GRIA3 deletion/duplication and present patients with GRIA3 mutation

From: X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

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