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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

Crossref DOI link: https://doi.org/10.1186/s13148-025-01907-y

Published Online: 2025-06-09

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Urakawa, Tatsuki

Kanamaru, Yuri

Amano, Naoko

Uchida, Akira

Fukami, Maki

Kagami, Masayo
Funding

Funding for this research was provided by:

Japanese Society for Pediatric Endocrinology Future Development Grant supported by Novo Nordisk Pharma Ltd.

National Center for Child Health and Development (2022B-5)

Japan Society for the Promotion of Science (22K07858 [C])

Japan Agency for Medical Research and Development (23ek0109587h0002)

Naito Science & Engineering Foundation

Takeda Science Foundation
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Text and Data Mining valid from 2025-06-09

Version of Record valid from 2025-06-09
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Article History

Received: 27 January 2025

Accepted: 23 May 2025

First Online: 9 June 2025

Declarations

:

: We obtained written informed consent from the patients or the patients’ parents to publish the patients’ clinical and molecular information.

: The authors declare no competing interests.

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