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
Because 28.6% of sporadic patients had OBS abnormalities, genetic examination for OBS should be considered in BWS patients with hypermethylated H19-DMR. LRS analysis for the H19-DMR revealed differences in methylation patterns between patients with and without OBS abnormalities and the methylation levels of each CpG between mothers and their offspring in families with OBS abnormalities.
Authors
- Riki Nishimura
- Reiko Kagawa
- Yutaka Nishimura
- Tatsuki Urakawa
- Hayate Masubuchi
- Hideaki Yagasaki
- Hidenobu Soejima
- Masayo Kagami
- Rika Kosaki
- Sumito Dateki
- Tsutomu Ogata
- Yasunori Wada
Institutions
- Hiroshima University (JP)
- Jichi Medical University (JP)
- Saga University (JP)
- Iwate Medical University (JP)
- Hamamatsu University School of Medicine (JP)
- Hiroshima City Asa Citizens Hospital (JP)
- Keio University Hospital (JP)
- University of Tokyo Hospital (JP)
- University of Yamanashi Hospital (JP)
- National Center For Child Health and Development (JP)
- Hamamatsu Medical Center (JP)
- Nagasaki University (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2026-02-03
- DOI
- https://doi.org/10.1186/s13148-026-02065-5
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00