ArticleAmerican journal of human genetics2008
Disruption of neurexin 1 associated with autism spectrum disorder.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 311 papers, 2 of them syntheses that pooled it.
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Who cites it
311 citing papers in PubMed, 2 syntheses or guidelines pooled it, 580 citations in OpenAlex.
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- Detecting suicide risk in bipolar disorder patients from lymphoblastoid cell lines genetic signatures.Translational psychiatry · 2025Article
- The neurexin gene family regulates olfactory glomerular formation.Cell reports · 2025Article
- Neurexin1α knockout in rats causes aberrant social behaviour: relevance for autism and schizophrenia.Psychopharmacology · 2025Article
- Alpha-neurexins in health and disease.Frontiers in molecular neuroscience · 2025Review
- Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology.NPJ genomic medicine · 2024Article
- Neurexin facilitates glycosylation of Dystroglycan to sustain muscle architecture and function in Drosophila.Communications biology · 2024Article
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Conserved autism-associated genes tune social feeding behavior in C. elegans.Nature communications · 2024Article
- KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies.American journal of human genetics · 2024Article
- Optical Genome Mapping Reveals Disruption of theGenes · 2024Article
- Landscape ofJournal of clinical medicine · 2024Review
- Distinct Alterations in Dendritic Spine Morphology in the Absence of β-Neurexins.International journal of molecular sciences · 2024Article
251 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 10 institutions in 3 countries.
Funding
Abstract
Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with karyotype 46,XX,ins(16;2)(q22.1;p16.1p16.3)pat, NRXN1 is directly disrupted within intron 5. Importantly, the father possesses the same chromosomal abnormality in the absence of ASD, indicating that the interruption of alpha-NRXN1 is not fully penetrant and must interact with other factors to produce ASD. The breakpoint in the second subject, with 46,XY,t(1;2)(q31.3;p16.3)dn, occurs approximately 750 kb 5' to NRXN1 within a 2.6 Mb genomic segment that harbors no currently annotated genes. A scan of the NRXN1 coding sequence in a cohort of ASD subjects, relative to non-ASD controls, revealed that amino acid alterations in neurexin 1 are not present at high frequency in ASD. However, a number of rare sequence variants in the coding region, including two missense changes in conserved residues of the alpha-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, respectively, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD.
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