FIGURE 2.

Enhancer disconnection in a reported BOFS patient. Graphical overview of how an heterozygous inversion found in a BOFS patient causes the physical disconnection between TFAP2A and its enhancers, leading to haploinsufficient TFAP2A expression in human neural crest cells (hNCCs). (A) Schematic representation of the wild-type (WT) TFAP2A allele. (B) Schematic representation of the altered TFAP2A allele, where an inversion disconnects TFAP2A from its cognate enhancers. Modified from Laugsch et al. (2019).