Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

doi:10.1093/hmg/ddu290

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Article

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

Human molecular genetics - 1 Nov 2014

Abi Habib Walid, Azzi Salah, Brioude Frédéric, Steunou Virginie, Thibaud Nathalie, Das Neves Cristina, Le Jule Marilyne, Chantot-Bastaraud Sandra, Keren Boris, Lyonnet Stanislas, Michot Caroline, Rossi Massimiliano, Pasquier Laurent, Gicquel Christine, Rossignol Sylvie, Le Bouc Yves, Netchine Irène

Abstract excerpt

Isolated gain of methylation (GOM) at the IGF2/H19 imprinting control region 1 (ICR1) accounts for about 10% of patients with BWS. A subset of these patients have genetic defects within ICR1, but the frequency of these defects has not yet been established in a large cohort of BWS patients with isolated ICR1 GOM. Here, we carried out a genetic analysis in a large cohort of 57 BWS patients with isolated ICR1 GOM...

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Identifiers

PMID: 24916376
DOI: 10.1093/hmg/ddu290

Genes

IGF2
SOX2

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