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Article

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

Human mutation - 1 Oct 2011

Demars Julie, Rossignol Sylvie, Netchine Irène, Lee Kai Syin, Shmela Mansur, Faivre Laurence, Weill Jacques, Odent Sylvie, Azzi Salah, Callier Patrick, Lucas Josette, Dubourg Christèle, Andrieux Joris, Le Bouc Yves, El-Osta Assam, Gicquel Christine

Abstract excerpt

The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been...

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Identifiers

PMID: 21780245
DOI: 10.1002/humu.21558

Genes

IGF2

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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.PMID 21780245Read ↗

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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 ↗

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