ArticleAutism research : official journal of the International Society for Autism Research2011
Contactin 4 as an autism susceptibility locus.
Article in Autism research : official journal of the International Society for Autism Research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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
34 citing papers in PubMed, 62 citations in OpenAlex.
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- Association between suicidal ideation and tandem repeats inFrontiers in psychiatry · 2023Article
- Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period.Journal of neurodevelopmental disorders · 2022Article
- Effect of the Minor C Allele ofNeuropsychiatric disease and treatment · 2022Article
- Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biological psychiatry · 2021Article
- The rs2619566, rs10260404, and rs79609816 Polymorphisms Are Associated With Sporadic Amyotrophic Lateral Sclerosis in Individuals of Han Ancestry From Mainland China.Frontiers in genetics · 2021Article
- GABAergic System Dysfunction in Autism Spectrum Disorders.Frontiers in cell and developmental biology · 2021Review
- Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2020Review
- Contactins in the central nervous system: role in health and disease.Neural regeneration research · 2019Review
- Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.Molecular cytogenetics · 2019Article
- Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD.Journal of developmental and physical disabilities · 2018Article
- The integrated landscape of causal genes and pathways in schizophrenia.Translational psychiatry · 2018Article
- CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.Molecular psychiatry · 2017Article
- A Neurodevelopmental Perspective for Autism-Associated Gene Function.OBM neurobiology · 2017Article
- Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules.Frontiers in genetics · 2017Article
- GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans.BMC genomics · 2016Article
- A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Frontiers in cellular neuroscience · 2016Review
- Limited impact of Cntn4 mutation on autism-related traits in developing and adult C57BL/6J mice.Journal of neurodevelopmental disorders · 2016Article
- Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.American journal of human genetics · 2015Article
- Proper migration and axon outgrowth of zebrafish cranial motoneuron subpopulations require the cell adhesion molecule MDGA2A.Biology open · 2015Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
Structural and sequence variation have been described in several members of the contactin (CNTN) and contactin-associated protein (CNTNAP) gene families in association with neurodevelopmental disorders, including autism. Using array comparative genome hybridization (CGH), we identified a maternally inherited ∼535 kb deletion at 3p26.3 encompassing the 5' end of the contactin 4 gene (CNTN4) in a patient with autism. Based on this finding and previous reports implicating genomic rearrangements of CNTN4 in autism spectrum disorders (ASDs) and 3p- microdeletion syndrome, we undertook sequencing of the coding regions of the gene in a local ASD cohort in comparison with a set of controls. Unique missense variants were identified in 4 of 75 unrelated individuals with ASD, as well as in 1 of 107 controls. All of the amino acid substitutions were nonsynonomous, occurred at evolutionarily conserved positions, and were, thus, felt likely to be deleterious. However, these data did not reach statistical significance, nor did the variants segregate with disease within all of the ASD families. Finally, there was no detectable difference in binding of two of the variants to the interacting protein PTPRG in vitro. Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors.
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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.