ArticleJournal of neurodevelopmental disorders2014
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Article in Journal of neurodevelopmental disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52 citing papers in PubMed, 95 citations in OpenAlex.
- Uncoupling memory impairments from autism-associated behaviors in Chd2 deficient mice.Molecular psychiatry · 2026Article
- Temporal and Cell-Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Engineering a human-based translational activator for targeted protein expression restoration.Nucleic acids research · 2026Article
- Molecular interactions of Chd8 in mouse brain highlights a role in chromatin-associated RNA processing.bioRxiv : the preprint server for biology · 2025Article
- Model-guided design of microRNA-based gene circuits supports precise dosage of transgenic cargoes into diverse primary cells.Cell systems · 2025Article
- Genome-wide association analysis reveals insights into the genetic architecture of mesenteric torsion in pigs.Scientific reports · 2025Article
- Effects of two chd2-knockout strains on the morphology and behavior in zebrafish.Development genes and evolution · 2024Article
- CHD2 Regulates Neuron-Glioma Interactions in Pediatric Glioma.Cancer discovery · 2024Article
- Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.Neurology. Genetics · 2024Article
- Model-guided design of microRNA-based gene circuits supports precise dosage of transgenic cargoes into diverse primary cells.bioRxiv : the preprint server for biology · 2024Article
- Transcription regulation by long non-coding RNAs: mechanisms and disease relevance.Nature reviews. Molecular cell biology · 2024Review
- Special clinical entity with 15q26 deletion: a novel case report.Journal of genetics · 2024Article
- Review
- Analysis of common genetic variation across targets of microRNAs dysregulated both in ASD and epilepsy reveals negative correlation.Frontiers in genetics · 2023Article
- Article
- A new CHD2 variant: not only severe epilepsy-a case report.Acta neurologica Belgica · 2022Article
- Development of a Tethered mRNA Amplifier to increase protein expression.Biotechnology journal · 2022Article
- Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2.Scientific reports · 2022Article
- The neurodevelopmental spectrum seen withPediatric investigation · 2022Article
- Clinical analysis ofPediatric investigation · 2022Article
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Authors and funding
18 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking.
methodsWe conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder.
resultsDetailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene.
conclusionsThe results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals.
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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.