An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.

doi:10.1016/j.ebiom.2026.106309

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Article

An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.

EBioMedicine - 1 Jun 2026

D'Incal Claudio Peter, Cappuyns Elisa, Paldi Flora, van der Lei Mathijs B, Annear Dale John, Alastruey Clara Milián, Sokolova Dimitra, Elinck Ellen, De Man Kevin, Konings Anthony, Huyghebaert Jolien, Thys Sofie, Pintelon Isabel, Verschuuren Marlies, Calus Elke, Van Dam Debby, De Deyn Peter P, Nguyen Sylvie, Yalcin Binnaz, Horii Takuro, Hatada Izuho, Mateiu Ligia, Cavalli Giacomo, Pasciuto Emanuela, Berghe Wim Vanden, Kooy R Frank

Abstract excerpt

BACKGROUND: Heterozygous de novo variants in the transcription factor Activity-Dependent Neuroprotective Protein (ADNP) cause a severe neurodevelopmental disorder, termed Helsmoortel-Van der Aa syndrome (HVDAS), characterised by autism, intellectual disability, and multisystem involvement. The ADNP gene is essential for embryonic development and interacts with components of several chromatin remodelling...

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Identifiers

PMID: 42208149
DOI: 10.1016/j.ebiom.2026.106309
PMCID: PMC13235381

Genes

ADNP
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Variants

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