Sanaa Choufani, Ph.D., is a Research Associate at the Department of Genetics and Genome Biology at the Hospital for Sick Children. She has published research articles in the areas of cardiovascular research, autism and growth-related disorders, epigenetics and genomic imprinting.
Article first published online: 20 AUG 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Imprinted Genes and Human Disease
Volume 154C, Issue 3, pages 343–354, 15 August 2010
How to Cite
Choufani, S., Shuman, C. and Weksberg, R. (2010), Beckwith–Wiedemann syndrome. Am. J. Med. Genet., 154C: 343–354. doi: 10.1002/ajmg.c.30267
How to cite this article: Choufani S, Shuman C, Weksberg R. 2010. Beckwith–Wiedemann syndrome. Am J Med Genet Part C 153C:343–354.
- Issue published online: 20 AUG 2010
- Article first published online: 20 AUG 2010
- Beckwith–Wiedemann syndrome;
- multilocus loss of methylation;
- chromosome 11p15 imprinted region
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial. BWS is caused by epigenetic or genomic alterations which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. In each domain, an imprinting center regulates the expression of imprinted genes in cis. Normally in domain 1, insulin-like growth factor 2 (IGF2) and the untranslated mRNA H19 are monoallelically expressed. In BWS, increased expression of IGF2 occurs via several mechanisms. In domain 2, CDKN1C, a growth repressor, and an untranslated RNA, KCNQ1OT1, are normally expressed monoallelically. In cases of BWS, several mechanisms result in reduced expression of CDKN1C. Recent reports of BWS cases have identified mutations outside the chromosome 11p15.5 critical region, thereby broadening the challenges in the diagnosis and genetic counseling of individuals and families with BWS. © 2010 Wiley-Liss, Inc.