ArticleMolecular psychiatry2017
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Article in Molecular psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Prevalence of Decreased Sound Tolerance (Hyperacusis) in Individuals With Autism Spectrum Disorder: A Meta-Analysis.Ear and hearingPooled it
- CNTN6 Modulates Slit-Robo Signaling in Cortical GABAergic Interneuron Migration.Neuroscience bulletin · 2026Article
- Decoding the shared genetic liability of lower respiratory tract infections via genomic structural equation modeling.BMC pulmonary medicine · 2026Article
- Otological conditions and autism spectrum disorder in Medicaid beneficiaries aged 1 to 20 years: a cross-sectional study.BMC pediatrics · 2026Article
- FOXG1 Hierarchically Shapes Synaptic Functions in Striatal iSPNs and Contributes to ASD Etiology.Neuroscience bulletin · 2026Article
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques.Genome biology · 2025Article
- Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population.Neuropsychopharmacology reports · 2025Article
- Molecular logic for cellular specializations that initiate the auditory parallel processing pathways.Nature communications · 2025Article
- Targeted correction of megabase-scalePeerJ · 2025Article
- Molecular logic for cellular specializations that initiate the auditory parallel processing pathways.bioRxiv : the preprint server for biology · 2024Article
- Molecular mechanism of contactin 2 homophilic interaction.Structure (London, England : 1993) · 2024Article
- Loss of primary cilia and dopaminergic neuroprotection in pathogenic LRRK2-driven and idiopathic Parkinson's disease.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Loss of primary cilia and dopaminergic neuroprotection in pathogenic LRRK2-driven and idiopathic Parkinson's disease.bioRxiv : the preprint server for biology · 2024Article
- Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.Brain sciences · 2023Article
- Article
- Proteomic characterization of atopic dermatitis blood from infancy to adulthood.Journal of the American Academy of Dermatology · 2023Observational
- Contactin-6-deficient male mice exhibit the abnormal function of the accessory olfactory system and impaired reproductive behavior.Brain and behavior · 2023Article
- 3q29 microduplication syndrome: New evidence for the refinement of the critical region.Molecular genetics & genomic medicine · 2023Article
- Prediction Model for Sensory Perception Abnormality in Autism Spectrum Disorder.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
36 authors at 12 institutions in 4 countries.
Funding
Abstract
Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6
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