2. Academic Validation
  3. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

  • Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776.
Christian P Schaaf 1,  Manuel L Gonzalez-Garay,  Fan Xia,  Lorraine Potocki,  Karen W Gripp,  Baili Zhang,  Brock A Peters,  Mark A McElwain,  Radoje Drmanac,  Arthur L Beaudet,  C Thomas Caskey,  Yaping Yang
Affiliations

Affiliation

  • 1 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA. [3].
PMID: 24076603 DOI: 10.1038/ng.2776
Abstract

Prader-Willi syndrome (PWS) is caused by the absence of paternally expressed, maternally silenced genes at 15q11-q13. We report four individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the PWS domain. The first subject was ascertained by whole-genome sequencing analysis for PWS features. Three additional subjects were identified by reviewing the results of exome sequencing of 1,248 cases in a clinical laboratory. All four subjects had autism spectrum disorder (ASD), intellectual disability and a varying degree of clinical and behavioral features of PWS. These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype.

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