Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR

Genet Test. 2004 Winter;8(4):387-94. doi: 10.1089/gte.2004.8.387.

Abstract

The molecular basis of Angelman syndrome and Prader-Willi syndrome is well established, and genetic testing for these disorders is clinically available. Imprinting abnormalities account for up to 4% of patients with Angelman and Prader-Willi syndromes. Deletions of the imprinting center region are the molecular abnormality observed in a subset of Angelman and Prader-Willi syndrome cases with imprinting defects. Genetic testing of imprinting center deletions in patients with Angelman and Prader-Willi syndrome is not readily available. Such testing is important for the diagnostics of Angelman and Prader-Willi syndrome because it allows for more accurate diagnosis and recurrence risk prediction in families. Here we describe the development, validation, and implementation of a real time quantitative polymerase chain reaction (PCR)-based assay for imprinting center deletion detection in patients with Angelman and Prader-Willi syndrome, which we have incorporated into our genetic testing strategy for these disorders. To date we have tested, on a clinical basis, five patients with either Angelman or Prader-Willi syndrome in whom an imprinting center defect was implicated and found a deletion in one patient that was determined to be familial.

Publication types

  • Clinical Trial
  • Validation Study

MeSH terms

  • Angelman Syndrome / genetics*
  • DNA / analysis
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Genomic Imprinting*
  • Humans
  • Polymerase Chain Reaction
  • Prader-Willi Syndrome / genetics*
  • Sensitivity and Specificity

Substances

  • DNA