ArticleBMC pediatrics2018
Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.
Article in BMC pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Genetic and molecular mechanisms of the FOXP2-CNTNAP2 pathway in Autism spectrum disorders and speech disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2026Pooled it
- Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes-Related Neurological Disorders.CNS neuroscience & therapeutics · 2026Article
- Zebrafish frk Gene Knockout Shows Social Impairments Relevant to Autism and Delays Brain Development by Increasing Cell Proliferation.Autism research : official journal of the International Society for Autism Research · 2026Article
- Article
- The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.Translational psychiatry · 2022Article
- Chd8 mutation in oligodendrocytes alters microstructure and functional connectivity in the mouse brain.Molecular brain · 2020Article
- A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination.Autism research : official journal of the International Society for Autism Research · 2020Article
- Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders. Genetically based subtype identification may prove more beneficial not only in illuminating the course and prognosis, but also for individualized treatment targets of an ASD sub-group. Increasing evidence has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an ASD sub-group. CASE PRESENTATION: Here we describe two ASD cases in children with mild intellectual disability, early motor deficits, and speech delay, without distinct structural or EEG brain anomalies. Exome sequencing revealed a novel heterozygous nonsense/missense mutations(c.2647C > A/p.E883X and c.1677C > A/p.M559I respectively) in CHD8 gene.
conclusionsThere were few cases in the literature reporting de novo mutation of CHD8 in ASD. As demonstrated in our patients, along with other previously reported studies support that disruption of the CHD8 gene represents a specific genetic sub-type of ASD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.