MAGEL2 (patho-)physiology and Schaaf-Yang syndrome

• Verfasst von: Schubert, Tim Felix [VerfasserIn]
• Verfasst von: Schaaf, Christian P. [VerfasserIn]
• Titel: MAGEL2 (patho-)physiology and Schaaf-Yang syndrome
• Verf.angabe: Tim Schubert, Christian P. Schaaf
• E-Jahr: 2025
• Jahr: Jan 2025
• Umfang: 14 S.
• Illustrationen: Illustrationen
• Fussnoten: Gesehen am 11.12.2024
• Titel Quelle: Enthalten in: Developmental medicine and child neurology
• Ort Quelle: Oxford [u.a.] : Wiley-Blackwell, 1959
• Jahr Quelle: 2025
• Band/Heft Quelle: 67(2025), 1 vom: Jan., Seite 35-48
• ISSN Quelle: 1469-8749
• DOI: doi:10.1111/dmcn.16018
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1911994816

Abstract

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 consolidate decades of research on MAGEL2 to elucidate its physiological functions. Moreover, we synthesize current knowledge on SYS, suggesting that while MAGEL2 loss-of-function seems to underlie several SYS and PWS phenotypes, additional pathomechanisms probably contribute to the distinct and severe phenotype observed in SYS. In addition, we highlight recent therapeutic advances and identify promising avenues for future investigation.