Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome

F Sun, S Hara, C Tomita, Y Tanoue… - American Journal of …, 2021 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi) genetic
alterations. The incidence of monozygotic (MZ) twins in BWS is higher than in the general …

The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome

F Sun, K Higashimoto, A Awaji, K Ohishi… - Journal of Human …, 2019 - nature.com
Beckwith-Wiedemann syndrome (BWS) is a representative imprinting disorder. Gain of
methylation at imprinting control region 1 (ICR1-GOM), leading to the biallelic expression of …

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

K Higashimoto, H Watanabe, Y Tanoue… - Journal of Medical …, 2021 - jmg.bmj.com
Silver-Russell syndrome (SRS) is a representative imprinting disorder. A major cause is the
loss of methylation (LOM) of imprinting control region 1 (ICR1) within the IGF2/H19 domain …