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Article

Paternally Inherited IGF2 Mutation and Growth Restriction.

The New England journal of medicine - 23 Jul 2015

Begemann Matthias, Zirn Birgit, Santen Gijs, Wirthgen Elisa, Soellner Lukas, Büttel Hans-Martin, Schweizer Roland, van Workum Wilbert, Binder Gerhard, Eggermann Thomas

Abstract excerpt

In humans, mutations in IGF1 or IGF1R cause intrauterine and postnatal growth restriction; however, data on mutations in IGF2, encoding insulin-like growth factor (IGF) II, are lacking. We report an IGF2 variant (c.191C→A, p.Ser64Ter) with evidence of pathogenicity in a multigenerational family with four members who have growth restriction. The phenotype affects only family members who have inherited the variant...

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Source

Identifiers

PMID: 26154720
DOI: 10.1056/NEJMoa1415227

Genes

IGF2
IGF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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