How do non-coding structural variants in DLG2 and NR3C2 promoters mechanistically contribute to ASD pathogenesis?

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Description

The study identifies recurrent deletions in promoter regions of DLG2 and NR3C2 affecting ASD risk, with nr3c2 loss disrupting sleep and social function in zebrafish. However, the molecular mechanisms linking these non-coding variants to ASD phenotypes remain unexplained, limiting therapeutic targeting of regulatory elements.

Gap type: unexplained_observation Source paper: Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. (2019, Cell, PMID:31398340)

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