Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
This study demonstrates that the BWS patients with MLID exhibit highly variable methylation changes that affect both imprinted and non-imprinted loci in a seemingly stochastic manner throughout the genome. These findings support the hypothesis that MLID results from the interaction of maternal-effect genes and environmental factors in aged oocytes, leading to disordered DNA methylation in the whole genome. Future research should investigate whether and how these epimutations impact the health of affected individuals, particularly in adulthood.
Authors
- Claudia Angelini (ORCID: https://orcid.org/0000-0001-8350-8464)
- Bruno Hay Mele (ORCID: https://orcid.org/0000-0001-5579-183X)
- Giovanni Battista Ferrero (ORCID: https://orcid.org/0000-0002-3793-5788)
- Carlo Giaccari (ORCID: https://orcid.org/0000-0002-5476-5362)
- Luigi Tarani (ORCID: https://orcid.org/0000-0001-5958-9364)
- Angela Sparago (ORCID: https://orcid.org/0000-0003-4352-945X)
- Francesco Cecere (ORCID: https://orcid.org/0000-0002-0329-0870)
- Andrea Riccio (ORCID: https://orcid.org/0000-0001-7990-3576)
- Pablo Lapunzina (ORCID: https://orcid.org/0000-0002-6324-4825)
- Laura Pignata (ORCID: https://orcid.org/0000-0001-8835-5567)
- Emilia D’Angelo (ORCID: https://orcid.org/0009-0001-1356-0395)
- Carmelo Piscopo
- Iris Scala (ORCID: https://orcid.org/0000-0003-2725-437X)
- Emilio Di Maria (ORCID: https://orcid.org/0000-0002-8357-2658)
- Flavia Cerrato (ORCID: https://orcid.org/0000-0003-3794-3021)
- Alessandro Mussa (ORCID: https://orcid.org/0000-0003-2795-6013)
- Gioacchino Scarano (ORCID: https://orcid.org/0000-0001-5477-0711)
- Jair Tenorio (ORCID: https://orcid.org/0000-0002-5308-2316)
- Giulia Gori (ORCID: https://orcid.org/0000-0002-8090-8945)
- Corrado Romano (ORCID: https://orcid.org/0000-0003-1049-0683)
- Abu Saadat (ORCID: https://orcid.org/0000-0001-9636-2513)
Institutions
- Hospital Universitario La Paz (ES)
- Ente Ospedaliero Ospedali Galliera (IT)
- University of Catania (IT)
- Ospedale Antonio Cardarelli (IT)
- Oasi Maria SS (IT)
- Hospital La Paz Institute for Health Research (ES)
- Istituto per le Applicazioni del Calcolo Mauro Picone (IT)
- Meyer Children's Hospital (IT)
- Centro de Investigación Biomédica en Red (ES)
- Federico II University Hospital (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- Institute of Genetics and Biophysics (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Turin (IT)
- University of Naples Federico II (IT)
- University of Genoa (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1186/s13148-025-01971-4
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Fondazione Telethon
- Associazione Italiana per la Ricerca sul Cancro
- Università degli Studi della Campania Luigi Vanvitelli