Cellular study of Schaaf-Yang syndrome offers better understanding of a rare disease that causes intellectual disability Mutations in the MAGEL2 gene, which cause Schaaf-Yang syndrome (SYS)—an ultra-rare disease that affects neuronal and cognitive development—generate truncated, non-functional proteins that tend to accumulate in the cell nucleus. Moreover, this progressive accumulation of abnormal proteins could cause a toxic effect in patients affected by the syndrome, who suffer congenital malformations, intellectual disability, alterations in facial features, sleep apnea and joint contractures.
https://medicalxpress.com/news..../2024-05-cellular-sc