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Genetic mutations leading to truncated proteins in Schaaf-Yang syndrome - EurekAlert
Mutations in the <em>MAGEL2</em> gene, which cause Schaaf-Yan 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 apnoea and joint contractures.
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