Molecular Findings in Beckwith–Wiedemann Syndrome
- 16 April 2013
- journal article
- review article
- Published by Wiley in Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics
- Vol. 163 (2), 131-140
- https://doi.org/10.1002/ajmg.c.31363
Abstract
Our understanding of Beckwith–Wiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These advances have further delineated intricate (epi)genetic regulation of the imprinted gene cluster on chromosome 11p15.5 and the role of these genes in normal growth and development. Studies of the molecular changes associated with the BWS phenotype have been instrumental in elucidating critical molecular elements in this imprinted region. This review will provide updated information on the multiple new regulatory elements that have been recently found to contribute to in cis or in trans control of imprinted gene expression in the chromosome 11p15.5 region and the clinical expression of the BWS phenotype.Keywords
This publication has 102 references indexed in Scilit:
- A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndromeEuropean Journal of Medical Genetics, 2011
- Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1European Journal of Human Genetics, 2011
- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann SyndromeEuropean Journal of Human Genetics, 2011
- Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromesHuman Mutation, 2010
- Beckwith–Wiedemann syndromeEuropean Journal of Human Genetics, 2009
- Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndromeEuropean Journal of Human Genetics, 2008
- Kcnq1ot1 Antisense Noncoding RNA Mediates Lineage-Specific Transcriptional Silencing through Chromatin-Level RegulationMolecular Cell, 2008
- A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal ImprintsDevelopmental Cell, 2008
- Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusHuman Genetics, 2006
- Tumour-suppressor activity of H19 RNANature, 1993