Identification of a <i>De Novo MAGEL2</i> Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Our study underscores the importance of combining genomic sequencing with methylation assay to accurately diagnose SYS, especially for de novo variants. The proposed diagnostic workflow facilitates reliable identification of pathogenic MAGEL2 mutations and their parental origin, improving diagnostic precision in clinical settings. Further research is needed to elucidate the molecular mechanisms underlying MAGEL2-related disorders and develop targeted therapies.