Article

Missense Mutation ADNP p.C687R Disrupts Chromatin Regulation and GABAergic Differentiation in HVDAS

2025-11-11

Abstract excerpt

Activity-dependent neuroprotective protein (ADNP) is a key regulator of neurodevelopment and a high-risk gene for autism spectrum disorder (ASD). Most pathogenic variants cause loss-of-function in Helsmoortel–Van der Aa syndrome (HVDAS), yet the impact of missense mutations remains unclear. Here, we characterized a ADNP missense mutation (p.C687R) identified from a HVDAS patient, predicted to disrupt its ninth zin...

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Literature Corpus work: 60b1b396-0413-54d8-9327-7da39580b346
DOI: 10.1101/2025.11.10.687585

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Missense Mutation ADNP p.C687R Disrupts Chromatin Regulation and GABAergic Differentiation in HVDASDOI 10.1101/2025.11.10.687585Read

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