Show Summary Details
Page of

IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome 

IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome
Chapter:
IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome
Author(s):

Marcel Mannens

, I. Karen Temple

, and Frederic Brioude

DOI:
10.1093/med/9780199934522.003.0143
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 25 February 2021

Beckwith–Wiedemann syndrome (BWS) (OMIM 130650) is a disorder of pre and postnatal overgrowth, birth defects, and predisposition to cancer, and therefore of great interest in understanding embryogenesis and malignancy. BWS is also a paradigm to evaluate the role of epigenetics, that is, heritable information not embodied within the DNA sequence itself. Genomic imprinting is a parent of origin-specific mark in the gamete, which leads to preferential expression of a specific parental allele in somatic cells of the offspring. Imprinted genes are often marked by differential DNA methylation of the two parental alleles. Several genes in an imprinted genomic domain of 11p15 are involved in the disorder, with insulin-like growth factor 2 (IGF2) and H19 associated with cancer and CDKN1C and KCNQ1OT1, linked to midline abdominal wall defects. There also are likely additional genes involved in the pathogenesis of BWS.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.