ArticleMolecular autism2013
Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders.
Article in Molecular autism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00494754 (Clinical and Genetic Study of Autism Spectrum Disorder), which is not on this map. Cited by 34 papers, 2 of them syntheses 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.
The trial behind it
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.
Clinical and Genetic Study of Autism Spectrum Disorder
Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.American journal of human genetics · 2016Pooled it
- Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.Autism research : official journal of the International Society for Autism Research · 2023Trial
- A genome-wide association study of young onset Parkinson's disease in European ancestry.medRxiv : the preprint server for health sciences · 2026Article
- Dlgap2 deficiency disrupts synaptic homeostasis by promoting ubiquitin-mediated Itsn1 degradation in a valproic acid-induced autism-like model.Scientific reports · 2026Article
- Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome.Orphanet journal of rare diseases · 2025Article
- DNA methylation biomarkers of intellectual/developmental disability across the lifespan.Journal of neurodevelopmental disorders · 2025Review
- Analysis of variant interactions in families with autism points to genes involved in the development of the central nervous system.PloS one · 2025Article
- Influence of substance use on male reproductive health and offspring outcomes.Nature reviews. Urology · 2024Review
- Spinophilin Limits Metabotropic Glutamate Receptor 5 Scaffolding to the Postsynaptic Density and Cell Type Specifically Mediates Excessive Grooming.Biological psychiatry · 2023Article
- Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.Frontiers in genetics · 2023Article
- Review
- DNA methylome perturbations: an epigenetic basis for the emergingly heritable neurodevelopmental abnormalities associated with maternal smoking and maternal nicotine exposure†.Biology of reproduction · 2021Review
- Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.Molecular psychiatry · 2021Article
- Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay.Molecular cytogenetics · 2021Article
- A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients.Frontiers in genetics · 2021Article
- Cannabis Exposure During Critical Windows of Development: Epigenetic and Molecular Pathways Implicated in Neuropsychiatric Disease.Current environmental health reports · 2020Review
- De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.Cold Spring Harbor molecular case studies · 2020Article
- Cannabis use and the sperm epigenome: a budding concern?Environmental epigenetics · 2020Review
- Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.Translational psychiatry · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe recently reported a terminal deletion of approximately 2.4 Mb at chromosome 8p23.2-pter in a boy with autism. The deleted region contained the DLGAP2 gene that encodes the neuronal post-synaptic density protein, discs, large (Drosophila) homolog-associated protein 2. The study aimed to investigate whether DLGAP2 is genetically associated with autism spectrum disorders (ASD) in general.
methodsWe re-sequenced all the exons of DLGPA2 in 515 patients with ASD and 596 control subjects from Taiwan. We also conducted bioinformatic analysis and family study of variants identified in this study.
resultsWe detected nine common single nucleotide polymorphisms (SNPs) and sixteen novel missense rare variants in this sample. We found that AA homozygotes of rs2906569 (minor allele G, alternate allele A) at intron 1 (P = 0.003) and CC homozygotes of rs2301963 (minor allele A, alternate allele C) at exon 3 (P = 0.0003) were significantly over-represented in the patient group compared to the controls. We also found no differences in the combined frequency of rare missense variants between the two groups. Some of these rare variants were predicted to have an impact on the function of DLGAP2 using informatics analysis, and the family study revealed most of the rare missense mutations in patients were inherited from their unaffected parents.
conclusionsWe detected some common and rare genetic variants of DLGAP2 that might have implication in the pathogenesis of ASD, but they alone may not be sufficient to lead to clinical phenotypes. We suggest that further genetic or environmental factors in affected patients may be present and determine the clinical manifestations.
trial registrationClinicalTrial.gov, NCT00494754.
Identifiers
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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.