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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy

Fig. 2

Molecular mechanism of Beckwith–Wiedemann syndrome. a Gain of methylation (GOM) at differentially methylated region 1 (DMR1) on the maternal chromosome results in downregulation of H19 and expression of IGF2. b Loss of methylation (LOM) at differentially methylated region 2 (DMR2) on the maternal chromosome results in downregulation of KCNQ1 and CDKN1C and expression of KCNQ1OT1. c Paternal uniparental disomy (UPD) occurs when a patient has two copies of the paternal chromosome and none of the maternal chromosome. Paternal UPD 11p15 results in overexpression of IGF2 in addition to downregulation of KCNQ1 and CDKN1C. d CDKN1C loss-of-function mutations on the maternal chromosome also result in Beckwith–Wiedemann syndrome. Green triangles indicate enhancers. Lollipops indicate methylated imprinting centers. Genes normally expressed from the maternal chromosome are depicted as red boxes, and genes normally expressed from the paternal chromosome are depicted as blue boxes. Arrows indicate the orientation of transcription. M = maternal. P = paternal. Tel = telomere. Cen = centromere

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