Figure 3

Localization of the deletions in chromosome 6p22.3-p24.1 in our five patients (top) and the overlapping part of the deletions in 17 out of 19 previously reported patients. SRO I in Patients 1-4 from the present report is 189 kb (red box), and SRO II in Patients 1-3 and 5 is 116 kb (green box). JARID2 and ATXN1 are deleted in 14 and 16 patients, respectively. Patient codes and deletion coordinates for previous patients are according to [1], except M from [2]. CNVs recorded in the Database of Genomic Variants (projects.tcag.ca/variation) (below) are covering only a minor part of the region deleted in the five patients. For the two genes located within the SRO I, a single CNV in JARID2 was located in an intronic sequence, and two CNVs were reported in DTNBP1: one located in an intronic sequence and one copy number gain including the 5’UTR and the first exon. For the two genes located within SRO II, no CNVs were reported in GMPR and one CNV, a gain in an intronic sequence observed in three individuals, was recorded in ATXN1. Data were uploaded into UCSC Genome Browser (http://genome.ucsc.edu).