Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity

Obes Res. 2005 Oct;13(10):1841-2. doi: 10.1038/oby.2005.224.

Abstract

MAGEL2 is one of the five genes inactivated in Prader-Willi Syndrome, a neurodevelopmental chromosome microdeletion disorder modified by genomic imprinting. By early childhood, individuals with Prader-Willi Syndrome exhibit hypothalamic dysfunction, including hyperphagia, and become obese in the absence of behavioral intervention. Murine Magel2 is highly expressed in the hypothalamus during development. We screened the MAGEL2 open reading frame for mutations in genomic DNA samples from hyperphagic but non-dysmorphic individuals with severe childhood-onset obesity. Although no mutations likely to affect gene function were identified, we identified three variant alleles. We conclude that severe childhood-onset obesity is not commonly caused by MAGEL2 mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm
  • Base Sequence
  • DNA Primers
  • Humans
  • Obesity / genetics*
  • Prader-Willi Syndrome / genetics*
  • Prader-Willi Syndrome / physiopathology
  • Proteins / genetics*
  • Severity of Illness Index

Substances

  • Antigens, Neoplasm
  • DNA Primers
  • MAGEL2 protein, human
  • Magel2 protein, mouse
  • Proteins