ArticleTranslational psychiatry2017
A novel rare variant R292H in RTN4R affects growth cone formation and possibly contributes to schizophrenia susceptibility.
Article in Translational psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Plasma Protein Patterns Associated with Paliperidone Palmitate Maintenance Therapy in Schizophrenia: A Prospective Cohort Study.CNS drugs · 2025Article
- Comparative Genomics of the World's Smallest Mammals Reveals Links to Echolocation, Metabolism, and Body Size Plasticity.Genome biology and evolution · 2024Article
- Soluble form of Lingo2, an autism spectrum disorder-associated molecule, functions as an excitatory synapse organizer in neurons.Translational psychiatry · 2024Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Proteomic insights into mental health status: plasma markers in young adults.Translational psychiatry · 2024Article
- Trio-based whole exome sequencing in patients with ectopic posterior pituitary.Frontiers in pediatrics · 2024Article
- Genomic and Reverse Translational Analysis Discloses a Role for Small GTPase RhoA Signaling in the Pathogenesis of Schizophrenia: Rho-Kinase as a Novel Drug Target.International journal of molecular sciences · 2023Review
- Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases.Clinical proteomics · 2023Article
- The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.Nature communications · 2022Article
- Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?International journal of molecular sciences · 2022Review
- Chimeric Structures in Mental Illnesses-"Magic" Molecules Specified for Complex Disorders.International journal of molecular sciences · 2022Review
- Probing theFrontiers in neuroscience · 2021Review
- Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility.Human genome variation · 2020Article
- The Biological Structure Model Archive (BSM-Arc): an archive for in silico models and simulations.Biophysical reviews · 2020Review
- Genetic Variants Were Associated With the Prognosis of Head and Neck Squamous Carcinoma.Frontiers in oncology · 2020Article
- Discovery of rare variants implicated in schizophrenia using next-generation sequencing.Journal of translational genetics and genomics · 2019Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reticulon 4 receptor (RTN4R) plays an essential role in regulating axonal regeneration and plasticity in the central nervous system through the activation of rho kinase, and is located within chromosome 22q11.2, a region that is known to be a hotspot for schizophrenia (SCZ) and autism spectrum disorder (ASD). Recently, rare variants such as copy-number variants and single-nucleotide variants have been a focus of research because of their large effect size associated with increased susceptibility to SCZ and ASD and the possibility of elucidating the pathophysiology of mental disorder through functional analysis of the discovered rare variants. To discover rare variants with large effect size and to evaluate their role in the etiopathophysiology of SCZ and ASD, we sequenced the RTN4R coding exons with a sample comprising 370 SCZ and 192 ASD patients, and association analysis using a large number of unrelated individuals (1716 SCZ, 382 ASD and 4009 controls). Through this mutation screening, we discovered four rare (minor allele frequency <1%) missense mutations (R68H, D259N, R292H and V363M) of RTN4R. Among these discovered rare mutations, R292H was found to be significantly associated with SCZ (P=0.048). Furthermore, in vitro functional assays showed that the R292H mutation affected the formation of growth cones. This study strengthens the evidence for association between rare variants within RTN4R and SCZ, and may shed light on the molecular mechanisms underlying the neurodevelopmental disorder.
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