Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site

Key Points

• The study aims to investigate methylation profile characteristics in patients with Beckwith-Wiedemann syndrome, focusing on those with OBS abnormalities.
• Long-read sequencing analysis of H19-DMR in Beckwith-Wiedemann syndrome patients.
• Comparison of methylation patterns between patients with and without OBS abnormalities.
• Examination of CpG methylation levels between mothers and offspring in families with OBS abnormalities.
• 28.6% of sporadic patients showed OBS abnormalities.
• Differences in methylation patterns were identified between patients with and without OBS abnormalities.
• Methylation levels varied at each CpG site between mothers and their offspring in families with OBS abnormalities.