[23]–[25]). Three regions showed rearrangements in more than one TS case. A ∼600 Kb region on 3q12.1 (overlapping the COL8A1 gene) was duplicated in four cases (Table 2). Two other regions on 2p22.3 and 5q21.1 (overlapping the BIRC6/TTC27/LTBP1 and the SLCO4C1/SLCO6A1 genes, respectively) were duplicated in two cases each (Table 2). We also examined genome regions with CNVs <500 kb but focusing solely on those encompassing exons of the same gene in at least two TS cases but not in controls. We identified four such regions, each carrying a CNV in two patients (Table 3). The largest rearrangements (two ∼400 kb deletions) encompass exons 1–3 of the Neurexin1 (NRXN1) gene on 2p16.3 (Figures S4–6 and S4–7).
