POGZ de novo missense variants in neuropsychiatric disorders

This 2019 report discussed de novo missense mutations in POGZ found in individuals with neuropsychiatric disorders (including autism and intellectual disability). It presented multiple patients harboring different de novo POGZ missense variants and compared their clinical presentations. Results: All patients showed developmental delays and/or autism spectrum features. At the molecular level, some missense variants were assessed for functional impact: one variant reduced POGZ’s interaction with chromatin partner proteins, while another affected its subcellular localization. These findings suggest that POGZ missense changes – not just truncating mutations – can cause a spectrum of neurodevelopmental disorders by disrupting POGZ protein function. The authors emphasize the importance of considering POGZ in genetic diagnoses of unexplained neurodevelopmental and psychiatric conditions.