Hereditary Genetics: Current Research

Abstract

The Role of MAGEL2 Gene on Schaaf-Yang Syndrome

Shahin Asadi*, Mohammad Reza Aranian

Schaaf-Yang Syndrome (SYS) is an imprinted neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene within chromosome 15q11-q13. Early clinical features overlap with Prader-Willi Syndrome (PWS), yet SYS is characterized by distal joint contractures and a higher prevalence of autistic traits. Recent molecular and animal studies have advanced the understanding of MAGEL2 function and identified potential therapeutic targets. Molecular confirmation through MAGEL2 sequencing remains the diagnostic gold standard. Current treatments are primarily supportive; early oxytocin administration has demonstrated partial behavioral improvements in animal models, likely via modulation of hypothalamic circuits, though human evidence is lacking. Comprehensive natural history data and genotype-phenotype correlations are still limited. Effective management requires a coordinated, multidisciplinary approach, and further translational studies are essential to guide targeted therapies.

Published Date: 2025-11-27; Received Date: 2025-10-28