Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region
Methylation defects in the GNAS-DMRs can cause the BWS-phenotype. For cases with the BWS-phenotype but no molecular defects in the 11p15.5 imprinted region, methylation analysis for the DMRs at the GNAS locus should be considered.
Authors
- Masayo Kagami (ORCID: https://orcid.org/0000-0003-3020-455X)
- Naoko Amano
- Yuri Kanamaru
- Maki Fukami (ORCID: https://orcid.org/0000-0001-9971-4035)
- Tatsuki Urakawa
- Akira Uchida
Institutions
- Kyoto University (JP)
- Hiroshima City Asa Citizens Hospital (JP)
- National Center For Child Health and Development (JP)
- Saitama Municipal Hospital (JP)
- Kyoto University Hospital (JP)
- Nagasaki University (JP)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2025-06-09
- DOI
- https://doi.org/10.1186/s13148-025-01907-y
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Takeda Science Foundation
- National Center for Child Health and Development
- Japan Agency for Medical Research and Development
- Naito Science and Engineering Foundation
- Novo Nordisk
- Novo Nordisk Pharma
- Japan Society for the Promotion of Science