Fig. 3: Noncoding structural variants disrupt gene regulation and 3D chromatin structure in neurodevelopmental disorders (NDDs).

Illustration of NDD cases in which the disruption of regulatory elements and/or 3D chromatin conformation has been identified as the causal mechanism (ten examples, a–j). Blue triangles reflect the topologically associated domain (TAD) structure of the locus. Depicted are (noncoding) genes represented by blue (gene of interest) and gray (other gene) boxes, brain enhancer elements (green ovals), patient deletions (red bars), duplications (purple bars), insertions (red triangles), and translocation or inversion breakpoints (red arrows).