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Article

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

Human mutation - 1 Jan 2017

Abi Habib Walid, Brioude Frederic, Azzi Salah, Salem Jennifer, Das Neves Cristina, Personnier Claire, Chantot-Bastaraud Sandra, Keren Boris, Le Bouc Yves, Harbison Madeleine D, Netchine Irene

Abstract excerpt

The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal growth. Silver-Russell syndrome (SRS) is characterized by fetal and postnatal growth failure, and is caused principally by hypomethylation of the 11p15 imprinting control region 1 (ICR1). However, the mechanisms leading to ICR1 hypomethylation remain unknown. Maternally inherited genetic defects affecting the ICR1 domain...

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Share to Chromosomes, Human, Pair 11
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

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Share to Insulin-Like Growth Factor II

Share to RNA, Long Noncoding

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Share to Silver-Russell Syndrome

Source

Identifiers

PMID: 27701793
DOI: 10.1002/humu.23131

Genes

IGF2
CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.PMID 27701793Read ↗

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.Semantic proximity Read ↗

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.Semantic proximity Read ↗

A novel large deletion of the ICR1 region including H19 and putative enhancer elements.Semantic proximity Read ↗

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome.Semantic proximity Read ↗

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.Semantic proximity Read ↗

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.Semantic proximity Read ↗

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.Semantic proximity Read ↗

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.Semantic proximity Read ↗

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?Semantic proximity Read ↗

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