Schaaf-Yang syndrome (SYS, OMIM #615547) is a rare neurodevelopmental disorder caused by truncating variants in the maternally imprinted MAGEL2 gene. It is characterized by intellectual disability, autism spectrum disorder, joint contractures, and feeding difficulties. Although MAGEL2 is deleted in...
Schaaf–Yang syndrome (SYS) is a complex neurodevelopmental disorder characterized by autism spectrum disorder, joint contractures, and profound hypothalamic dysfunction. SYS is caused by variants in MAGEL2, a gene within the Prader–Willi syndrome (PWS) locus on chromosome 15. In this review, we...
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified abnormal pancreatic islet development with retention of...
Previous studies in mice have utilized Magel2 gene deletion models to examine the consequences of its absence. We report the generation, molecular validation and phenotypic characterization of a novel rat model with a truncating Magel2 mutation modeling variants associated with Schaaf-Yang...
