MITF and Werner syndrome: We utilized high‐throughput sequencing to examine all exons and flanking regions of the PAX3, MITF, SNAI2, EDN3, EDNRB, and SOX10 genes in the proband and detected a novel mutation, c.420‐424de1CGCGGinsTTAC, in PAX3. Discovering and reporting novel WS causative mutations facilitates the analysis of correlations between WS genotypes and phenotypes, gradually improving the WS‐related genetic variation database for the Chinese population and providing evidence for further genetic consultation and the diagnosis and prenatal diagnosis of WS.