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

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

Abstract Background Beckwith–Wiedemann syndrome (BWS) is a congenital imprinting disorder (ID) caused by molecular defects in the 11p15.5 imprinted region, such as hypomethylation of the KCNQ1OT1:TSS-differentially methylated region (KCNQ1OT1-DMR) and hypermethylation of the H19/IGF2:IG-DMR, and mat...

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Main Authors: Tatsuki Urakawa, Yuri Kanamaru, Naoko Amano, Akira Uchida, Maki Fukami, Masayo Kagami
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Clinical Epigenetics
Subjects:
Beckwith–Wiedemann syndrome
Imprinting disorders
GNAS
Pseudohypoparathyroidism
Methylation analysis
9p deletion
Online Access:https://doi.org/10.1186/s13148-025-01907-y
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