It has been proposed that PRS-associated mutations perturb the function of key SOX9 long-range enhancers active during craniofacial development (Amarillo et al., 2013; Benko et al., 2009; Gordon et al., 2009, 2014); however, functional characterization of putative craniofacial enhancers and direct demonstration that SOX9 is the target gene are still lacking. This evidence concerns the gene SOX9 and polygenic risk score.