ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.Translational pediatrics · 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
- Transcriptome profiling of neurexin- and neuroligin-deficient Caenorhabditis elegans reveals pathways underlying developmental and behavioral dysfunction.Research square · 2026Article
- Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions.Disease models & mechanisms · 2026Article
- Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons.Cell reports · 2026Article
- Allele-specific rescue of neurexin behavioral phenotypes by monoamine-targeting compounds.bioRxiv : the preprint server for biology · 2026Article
- Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions across development.bioRxiv : the preprint server for biology · 2026Article
- Insertion of rare autism variants in synaptic genes induce novel behavioral phenotypes inbioRxiv : the preprint server for biology · 2025Article
- Gene editing in "cell villages" enables exploring disease-relevant mutations in many genetic backgrounds.bioRxiv : 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
- Autoantibodies and Inflammation in Schizophrenia.Psychiatry and clinical neurosciences · 2025Review
- Distinct Synaptic Mechanisms DrivebioRxiv : the preprint server for biology · 2025Article
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 2025Article
- Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.Human genomics · 2025Article
- Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology.NPJ genomic medicine · 2024Article
- Article
- Landscape ofJournal of clinical medicine · 2024Review
- The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.Brain sciences · 2024Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
32 authors at 15 institutions in 2 countries.
Funding
Abstract
purposeThe purpose of the current study was to assess the penetrance of NRXN1 deletions.
methodsWe compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions.
resultsWe identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3' end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5' NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035).
conclusionsThe results support the importance of exons near the 5' end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes.Genet Med 19 1, 53-61.
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