ArticleDiscoveries (Craiova, Romania)2020
A de novo variant of CHD8 in a patient with autism spectrum disorder.
Article in Discoveries (Craiova, Romania), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- The histone methyltransferase SETD2 regulates adult brain structure, connectivity and neurogenesis.Scientific reports · 2025Article
- Persistent cortical excitatory neuron dysregulation in adultResearch square · 2025Article
- Association ofJournal of clinical medicine · 2024Article
- Neuroimaging genetics approaches to identify new biomarkers for the early diagnosis of autism spectrum disorder.Molecular psychiatry · 2023Review
- Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.American journal of human genetics · 2023Article
- Recent Updates on Corticosteroid-Induced Neuropsychiatric Disorders and Theranostic Advancements through Gene Editing Tools.Diagnostics (Basel, Switzerland) · 2023Review
- The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1.Scientific reports · 2022Article
- Exposure to Antibiotics and Neurodevelopmental Disorders: Could Probiotics Modulate the Gut-Brain Axis?Antibiotics (Basel, Switzerland) · 2022Review
- The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.Translational psychiatry · 2022Article
- Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders, usually diagnosed in early childhood, that are characterized by adaptive deficits in social interaction, communication skills, and restricted or stereotyped repetitive patterns of behavior. There had been limited success to define ASD subtypes on the behavioral basis. Genetically categorized ASD subtypes may provide basis to determine the course, prognosis, and individualized mechanism based treatment. Mutations in chromodomain helicase DNA-binding protein 8 (CHD8) gene, have been associated with autism, macrocephaly, speech delay, distinct facial features, sleep and gastrointestinal disturbances. There are few cases in the literature reporting de novo mutations of CHD8 exhibiting sporadic ASD. Here we describe a Saudi boy with developmental delay, intellectual disability, macrocephaly, craniofacial abnormalities, speech delay, but without any history of seizures, gastrointestinal problems or sleep disturbance. Whole exome sequencing for parent-child trio revealed a de novo heterozygous loss-of-function mutation (c.4984C>T, p.Arg1662Ter) in CHD8 gene. Our findings elaborate the genotype-phenotype correlation and confirm that the CHD8 disruptions represent a clinical ASD subtype and further highlight the significance of implementing genomic medicine in clinical practice for an early intervention and necessary support for the families.
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