Karin Buiting, Senior Scientist at the Institute of Human Genetics at the University Hospital Essen. Her main research interest is the role of genomic imprinting and the epigenetic mechanisms involved in human disease, especially in Prader–Willi and Angelman syndromes.
Prader–Willi syndrome and Angelman syndrome†
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 365–376, 15 August 2010
How to Cite
Buiting, K. (2010), Prader–Willi syndrome and Angelman syndrome. Am. J. Med. Genet., 154C: 365–376. doi: 10.1002/ajmg.c.30273
How to cite this article: Buiting K. 2010. Prader–Willi syndrome and Angelman syndrome. Am J Med Genet Part C Semin Med Genet 153C:365–376.
- Issue published online: 20 AUG 2010
- Article first published online: 20 AUG 2010
- Bundesministerium für Bildung und Forschung Network Imprinting diseases. Grant Number: 01GM0882-886
- genomic imprinting;
- imprinting defects;
- Prader–Willi syndrome;
- Angelman syndrome;
- DNA methylation
Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a deficiency of the UBE3A gene, which in the brain is expressed from the maternal allele only. The most frequent genetic lesions in both disorders are a de novo deletion of the chromosomal region 15q11q13, uniparental disomy 15, an imprinting defect or, in the case of AS, a mutation of the UBE3A gene. Microdeletions in a small number of patients with PWS and AS have led to the identification of the chromosome 15 imprinting center (IC). The IC consists of two critical elements, which act in cis to regulate imprinting in the whole chromosome 15q11q13 imprinted domain. © 2010 Wiley-Liss, Inc.