Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

@article{Lennerz2010AdditionOH,
  title={Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.},
  author={Jochen K Lennerz and Robert J Timmerman and Dorothy Katherine Grange and Michael R. DeBaun and Andrew P. Feinberg and Barbara A. Zehnbauer},
  journal={The Journal of molecular diagnostics : JMD},
  year={2010},
  volume={12 5},
  pages={576-88}
}
Beckwith-Wiedemann syndrome (BWS) is a clinical diagnosis; however, molecular confirmation via abnormal methylation of DMR2(LIT1) and/or DMR1(H19) has clinical utility due to epigenotype-tumor association. Despite the strong link between H19 hypermethylation and tumor risk, several diagnostic laboratories only test for hypomethylation of LIT1. We assessed… CONTINUE READING