Home Current Issue Previous Issues Published Ahead-of-Print For Authors Journal Info
Skip Navigation LinksHome > February 2014 - Volume 21 - Issue 1 > Beckwith–Wiedemann and Russell–Silver Syndromes: from new mo...
Current Opinion in Endocrinology, Diabetes & Obesity:
doi: 10.1097/MED.0000000000000037
GROWTH AND DEVELOPMENT: Edited by Lynne L. Levitsky

Beckwith–Wiedemann and Russell–Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation

Azzi, Salaha,b,c; Abi Habib, Walida,b,c; Netchine, Irenea,b,c

Collapse Box

Abstract

Purpose of review

The imprinted human 11p15.5 region encompasses two imprinted domains important for the control of fetal growth: the H19/IGF2 domain in the telomeric region and the KCNQ1OT1/CDKN1C domain in the centromeric region. These two domains are differentially methylated and each is regulated by its own imprinting control region (ICR): ICR1 in the telomeric region and ICR2 in the centromeric region. Aberrant methylation of the 11p15.5 imprinted region, through genetic or epigenetic mechanisms, leads to two clinical syndromes, with opposite growth phenotypes: Russell–Silver Syndrome (RSS; with severe fetal and postnatal growth retardation) and Beckwith–Wiedemann Syndrome (BWS; an overgrowth syndrome).

Recent findings

In this review, we discuss the recently identified molecular abnormalities at 11p15.5 involved in RSS and BWS, which have led to the identification of cis-acting elements and trans-acting regulatory factors involved in the regulation of imprinting in this region. We also discuss the multilocus imprinting disorders identified in various human syndromes, their clinical outcomes and their impact on commonly identified metabolism disorders.

Summary

These new findings and progress in this field will have direct consequence for diagnostic and predictive tools, risk assessment and genetic counseling for these syndromes.

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

Login

Search for Similar Articles
You may search for similar articles that contain these same keywords or you may modify the keyword list to augment your search.