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Article

A Novel Variant of the CHD8 Gene in a Patient with Autism Spectrum Disorder.

Genes - 23 May 2026

Falcone Elena, Bauleo Alessia, De Stefano Laura, Brando Rossella, Maietta Sabrina, Tabolacci Elisabetta, Montesanto Alberto, Pace Vincenza, Apa Rosalbina, Puntorieri Domenica, Cento Luca, Cuconato Giada, Muoio Maria Grazia, Genuardi Maurizio

Abstract excerpt

Background/Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disease with both clinical and genetic heterogeneity. Several loss-of-function variants in the chromodomain helicase DNA-binding protein 8 (CHD8) gene have been identified in individuals with ASD and/or developmental delay/intellectual disability. These are associated with specific clinical manifestations, including overgrowth,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42353758
DOI: 10.3390/genes17060599
PMCID: PMC13298503

Genes

CHD8
CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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