Regulatory Mutations Leading to Cleft Lip and Palate

摘要: Cleft lip and palate is one of the most common craniofacial birth defects all defects. Its high impact on affected individual, their families, society provides strong motivation to understand causes. Initial genetic studies focused coding regions genes that are required for normal development palate. However, many individuals with cleft do not have mutations in these regions, requiring a broader search mutations. Recent included conserved noncoding sequences may harbor regulatory elements. In this chapter, we focus discovery characterization two DNA variants vicinity associated First, minor allele SNP rs642961 exemplifies validation variant alters expression IRF6, gene both Second, sequence 1.5 Mb away from SOX9 long-range enhancer element. This chapter also contains brief discussions other examples affect elements contribute an increased risk We discuss approaches resources available genetics community accelerate additional activity. end discussion tantalizing questions remain be answered about regulation IRF6 how account missing heritability.