4.8 Article

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Journal

NATURE GENETICS
Volume 45, Issue 11, Pages 1405-+

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2776

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Funding

  1. US National Institutes of Health grant [HD037283]
  2. Joan and Stanford Alexander family
  3. Doris Duke Charitable Foundation
  4. Cullen Foundation for Higher Education
  5. Houston Foundation

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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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