Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.

doi:10.1038/s41380-026-03646-9

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.

Molecular psychiatry - 1 Oct 2026

Kim Jinkyeong, Lee Seungjoon, Hwang Eunkyu, Jung Hwajin, Lee Chanhee, Choi Sang-Han, Lee Sooyeon, Kim Seongbin, Moon Heera, Kim Jisoo, Lee Gina, Kim Yong Gyu, Shin Soogeun, Kang Hyojin, Kim Se Jin, Gee Heon Yung, Kim Seong-Gi, Lee Eunee, Kim Eunjoon

Abstract excerpt

CHD8 is a chromatin remodeler implicated in autism spectrum disorders (ASD) and multiple neurodevelopmental disorders, yet heterozygous Chd8-mutant mouse lines often exhibit only mild ASD-related phenotypes, leaving its role unclear. Because a complete knockout of Chd8 causes embryonic lethality, we generated viable homozygous Chd8-mutant mice carrying the human CHD8-Asn2373LysfsX2 mutation using a hybrid...

Read the complete abstract on PubMed

Topics

Animals
Male
Female
Mice
Phenotype
Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

DNA-Binding Proteins

Sex Characteristics

Mutation

Brain

Homozygote

Mice, Inbred C57BL

Disease Models, Animal

Humans

Transcription Factors

Mice, Knockout

Source

Open in PubMed Open full text

Identifiers

PMID: 42106518
DOI: 10.1038/s41380-026-03646-9
PMCID: PMC13569427

Genes

CHD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.PMID 42106518Read ↗

Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex.Semantic proximity Read ↗

The complex etiology of autism spectrum disorder due to missense mutations of CHD8.Semantic proximity Read ↗

Neurodevelopmental functions of CHD8: new insights and questions.Semantic proximity Read ↗

Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.Semantic proximity Read ↗

Disruptive CHD8 mutations define a subtype of autism early in development.Semantic proximity Read ↗

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.Semantic proximity Read ↗

Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice.Semantic proximity Read ↗

The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders.Semantic proximity Read ↗

Cell-type-specific synaptic imbalance and disrupted homeostatic plasticity in cortical circuits of ASD-associated Chd8 haploinsufficient mice.Semantic proximity Read ↗

Genetic Mouse Models of Autism Spectrum Disorder Present Subtle Heterogenous Cardiac AbnormalitiesSemantic proximity Read ↗

Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of <i>CHD8</i> heterozygous cerebral organoidsSemantic proximity Read ↗

Uncoupling memory impairments from autism-associated behaviors in Chd2 deficient mice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.