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In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3’ deletions

2025-09-02

Abstract excerpt

Heterozygous deletions in NRXN1 , encoding the presynaptic adhesion molecule Neurexin 1, are among the most frequently identified rare variants in schizophrenia and other neuropsychiatric disorders. Patient sequencing has revealed that 3’ deletions within NRXN1 generate novel isoforms not produced from the intact locus, yet whether these isoforms are functional, passively non-functional, or actively pathogenic...

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Literature Corpus work: 960fef57-fda0-5537-bccd-0b9d93b65f81
DOI: 10.1101/2025.08.29.672776

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<i>In vivo</i> dissection of human <i>NRXN1</i> isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3’ deletions

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