ArticlePLoS genetics2015
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 54 citations in OpenAlex.
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population.Neuropsychopharmacology reports · 2025Article
- Targeted correction of megabase-scalePeerJ · 2025Article
- Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.Human genetics · 2023Review
- Altered Blood Brain Barrier Permeability and Oxidative Stress inJournal of clinical medicine · 2022Article
- GABAergic System Dysfunction in Autism Spectrum Disorders.Frontiers in cell and developmental biology · 2021Review
- Quantitative cellular-resolution map of the oxytocin receptor in postnatally developing mouse brains.Nature communications · 2020Article
- Altered social behavior in mice carrying a cortical Foxp2 deletion.Human molecular genetics · 2019Article
- Latrophilin's Social Protein Network.Frontiers in neuroscience · 2019Review
- Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.PLoS genetics · 2018Article
- Identifying specific prefrontal neurons that contribute to autism-associated abnormalities in physiology and social behavior.Molecular psychiatry · 2018Article
- Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.Molecular genetics & genomic medicine · 2018Article
- Structural abnormalities in the primary somatosensory cortex and a normal behavioral profile in Contactin-5 deficient mice.Cell adhesion & migration · 2018Article
- Article
- Generation of megabase-scale deletions, inversions and duplications involving the Contactin-6 gene in mice by CRISPR/Cas9 technology.BMC genetics · 2017Article
- Psychiatric behaviors associated with cytoskeletal defects in radial neuronal migration.Cellular and molecular life sciences : CMLS · 2017Review
- IntragenicMolecular syndromology · 2017Review
- CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.Molecular psychiatry · 2017Article
- Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.International journal of molecular sciences · 2017Review
- Sex-specific gene-environment interactions underlying ASD-like behaviors.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 5 institutions in 1 country.
Funding
Abstract
Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses, and both common and rare single nucleotide association studies. However, data specifically with regard to the contribution of heterozygous single nucleotide variants (SNVs) have been inconsistent. In an effort to clarify the role of rare point mutations in CNTNAP2 and related gene families, we have conducted targeted next-generation sequencing and evaluated existing sequence data in cohorts totaling 2704 cases and 2747 controls. We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk.
Indexed as
Identifiers
What OpenQuestion holds
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.