This study found that KAT6B is hypermethylated in CS patients through target region methylation analysis, which is positively correlated with the severity of CS, and determined that EZH2 mediates trimethylation of H3K27 on KAT6B promoter, which is involved in vertebral development via the RUNX2/Wnt/β-catenin signaling pathway. The gene discussed is KAT6B; the disease is Cowden syndrome 1.