Ontology highlight
ABSTRACT:
SUBMITTER: Schaaf CP
PROVIDER: S-EPMC3819162 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Nature genetics 20130929 11
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 (A ...[more]