Figure 2

3q13.31 deletions and duplications overlapping neuropsychiatric candidate genes DRD3 , ZBTB20 , LSAMP, and GAP43. The image was modified from the Database of Genomic Variants (http://dgv.tcag.ca), NCBI Build 36 (hg 18) [13]. Only deletions and duplications <5 Mb in size and overlapping at least one of DRD3, GAP43, ZBTB20, and LSAMP are shown. Deletions and duplications are represented by red and blue bars, respectively. All genes (purple) and miRNAs (orange) within the 3q13.2-q13.31 region are shown; splice variants are not included. The grey bar outlines the coordinates for the 580 kb (chr3:115,335,356-115,916,848) shortest region of overlap (SRO) defined by Molin et al. [1]. The purple bar outlines the boundaries for the Gimelli deletion (chr3:116,640,577- 118,002,810, hg 18) that overlapped GAP43 and LSAMP[3]. The 4.5 Mb deletion reported by Wisniowiecka-Kowalnik [14], the 4.57 Mb deletion in DECIPHER Case 258860, and the 3.4 Mb duplication by Vuillaume [4] extend beyond the boundary of the figure and are represented by line breaks. Where necessary, all deletion and duplication coordinates (i.e., excluding the Molin et al. SRO and the case described in this report) were converted from hg 19 to hg 18 using The UCSC Genome LiftOver tool (http://genome.ucsc.edu).