Furthermore, in our focused genome analysis of children with concomitant cleft and outflow tract congenital heart defect, we identified a de novo mutation in the MED12 gene as likely pathogenic (107), and this gene is known to interact with SOX9. Finally, in relation to the importance of second heart field biology, a potential link may exist with the enrichment found in lipid metabolism. This evidence concerns the gene SOX9 and congenital heart disease.