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. Author manuscript; available in PMC: 2017 Apr 28.
Published in final edited form as: Mol Psychiatry. 2015 Sep 15;21(7):936–945. doi: 10.1038/mp.2015.139

Figure 1. Microdeletion and mutation of GLRA2 in ASD.

Figure 1

(a) Physical map of Xp22.2. CNV analysis showed a GLRA2 deletion removing exons 8 and 9 in Patient 1, inherited from his unaffected mother (red). (b) Gel image of long-range PCR products showing an abnormal 1.1 kb allele in Patient 1 and his mother. (c) Breakpoint sequence analysis in Patient 1 revealed a 151055 bp deletion starting in intron 7 of GLRA2. A G>A transition precedes the deletion. (d) Identification of a de novo missense mutation in exon 4 of GLRA2 in Patient 2 (c.458G>A, p.153R>Q). (e) Schematic representation of the GLRA2 protein with the deletion and the mutation identified in ASD. The exons are indicated by brackets; the signal peptide and the four transmembrane domains are shown in dark blue and orange, respectively. The alignment of protein sequences of human GlyRs and orthologs from other species is shown below. The highly conserved arginine at position 153, mutated in Patient 2, is boxed in red.