title: Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity.
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.
authors.affiliation: Department of Medical Genetics, 8-42 Medical Science Building, University of Alberta, Edmonton, Alberta, Canada T6G 2H7.
authors.forename: Megan A
authors.initials: MA
authors.lastname: O'Neill
authors.forename: I Sadaf
authors.initials: IS
authors.lastname: Farooqi
authors.forename: Rachel
authors.initials: R
authors.lastname: Wevrick
mesh_terms: D000951:Antigens, Neoplasm; D001483:Base Sequence; D017931:DNA Primers; D006801:Humans; D009765:Obesity / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000503:physiopathology; D011506:Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D000951:Antigens, Neoplasm; D017931:DNA Primers; D011506:Proteins; C510822:MAGEL2 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins; C403091:Magel2 protein, mouse