Affordable Access

Publisher Website

Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes

Authors
Journal
European Journal of Medical Genetics
1769-7212
Publisher
Elsevier
Publication Date
Volume
50
Issue
1
Identifiers
DOI: 10.1016/j.ejmg.2006.10.001
Keywords
  • Imprinting Defect
  • Methylation Pattern
  • Real-Time Pcr
  • Southern Blot
  • Mosaicism
Disciplines
  • Medicine

Abstract

Abstract Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively. This deficiency is due to the deletion of the 15q11-q13 region, parental uniparental disomy of the chromosome 15, or imprinting defect (ID). Mutation of the UBE3A gene causes approximately 10% of AS cases. In this present study, we describe the molecular analysis and phenotypes of two PWS patients and four AS patients with ID. One of the PWS patients has a non-familial imprinting center (IC) deletion and displayed a severe phenotype with an atypical PWS appearance, hyperactivity and psychiatric vulnerability. The other PWS and AS patients did not present genetic abnormalities in the IC, suggesting an epimutation as the genetic cause. The methylation pattern of two AS patients showed a faint maternal band corresponding to a mosaic ID. One of these mosaic patients displayed a mild AS phenotype while the other displayed a PWS-like phenotype.

There are no comments yet on this publication. Be the first to share your thoughts.