Mechanism of epimutation leading to Beckwith–Wiedemann syndrome

Beckwith–Wiedemann is caused by epigenetic mutation near the gene KCNQ1, which leads to defective transcription and imprinting error.

More: Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus, F. M. Valente et al., published 12th January 2019, doi:10.1038/s41436-018-0416-7