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Article

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

Abi Habib Walid, Brioude Frédéric, Edouard Thomas, Bennett James T, Lienhardt-Roussie Anne, Tixier Frédérique, Salem Jennifer, Yuen Tony, Azzi Salah, Le Bouc Yves, Harbison Madeleine D, Netchine Irène

Abstract excerpt

PurposeFetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver-Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor...

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Share to Epigenesis, Genetic
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Growth Retardation

Share to Gene Expression Regulation, Developmental

Share to HMGA2 Protein

Share to Insulin-Like Growth Factor II

Share to Silver-Russell Syndrome

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 28796236
DOI: 10.1038/gim.2017.105
PMCID: PMC5846811

Genes

IGF2
PLAG1
HMGA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Research trail→

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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.PMID 28796236Read ↗

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.Semantic proximity Read ↗

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.Semantic proximity Read ↗

Genetics Etiologies Associated with Fetal Growth RestrictionSemantic proximity Read ↗

Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.Semantic proximity Read ↗

Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann SyndromesSemantic proximity Read ↗

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.Semantic proximity Read ↗

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