ArticleNPJ genomic medicine2024
Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology.
Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Identification of a Ste20-like kinase-dependent signaling network orchestrating cytoskeletal and synaptic development of cortical neurons.Cell communication and signaling : CCS · 2026Article
- Molecular and Cellular Mechanisms of Synaptogenesis and Synaptic Refinement During Cerebellar Circuit Formation.International journal of molecular sciences · 2026Review
- Indirect pathway neurons in the tail of the striatum regulate inhibitory control over sensory driven behavior.Science advances · 2026Article
- Intrafamilial Variability inInternational journal of molecular sciences · 2026Review
- Clinical Phenotypes Associated withSultan Qaboos University medical journal · 2026Article
- Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism.Frontiers in neuroscience · 2026Review
- Insertion of rare autism variants in synaptic genes induce novel behavioral phenotypes inbioRxiv : the preprint server for biology · 2025Article
- Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions.Journal of neurodevelopmental disorders · 2025Article
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Authors and funding
14 authors.
Funding
Abstract
The NRXN1 locus is a hotspot for non-recurrent copy number variants and exon-disrupting NRXN1 deletions have been associated with increased risk of neurodevelopmental disorders in case-control studies. However, corresponding population-based estimates of prevalence and disease-associated risk are currently lacking. Also, most studies have not differentiated between deletions affecting exons of different NRXN1 splice variants nor considered intronic deletions. We used the iPSYCH2015 case-cohort sample to obtain unbiased estimates of the prevalence of NRXN1 deletions and their associated risk of autism, schizophrenia, depression, and ADHD. Most exon-disrupting deletions affected exons specific to the alpha isoform, and almost half of the non-exonic deletions represented a previously reported segregating founder deletion. Carriage of exon-disrupting NRXN1 deletions was associated with a threefold and twofold increased risk of autism and ADHD, respectively, whereas no significantly increased risk of depression or schizophrenia was observed. Our results highlight the importance of using population-based samples in genetic association studies.
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