File:Ijms-22-03445-g001-550.webp

English: Figure 1. Schematic representation of genetic and epigenetic defects underlying Beckwith-Wiedemann syndrome (BWS). (a) Imprinting setting of IC1 and IC2 and expression of imprinted genes in the two 11p15 clusters on the maternal (red) and paternal (blue) allele in normal conditions. (b) IC2 LOM on the maternal allele leading to reduced expression of CDKN1C and KCNQ1. (c) IC1 GOM at the maternal allele leading to biallelic expression of IGF2 and silencing of H19. (d) pUPD11 resulting in the downregulated expression of CDKN1C and H19 and biallelic expression of IGF2. (e) Maternal CDKN1C loss of function mutations resulting in absence of functional CDKN1C protein (adapted with permission from [18], Copyright (2021) John Wiley and Sons).