Methylation status of the KCNQ1OTand H19 genes in beckwith-wiedemann syndrome

The aim of this study was to assess the methylation status of the KCNQ1OT and H19 genes in patients with Beckwith-Wiedemann syndrome [BWS]. The study included three patients [two males and one female] diagnosed clinically as BWS. All patients showed hypomethylation of the KCNQ1OT gene and did not show abnormal methylation of the H19 gene. None of the three patients developed tumors in the follow up period. These results showed that the analysis of the methylation status of the KCNQ1OT and H19 gene is useful method in the diagnosis of BWS patients. Molecular diagnosis could be considered for defining the tumor risk in BWS patients