Rare NRXN1 promoter variants in patients with schizophrenia

Abhishek K. Shah, Nina M. Tioleco, Karen Nolan, Joseph Locker, Katherine Groh, Catalina Villa, Pavla Stopkova, Erika Pedrosa, Herbert M. Lachman

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Copy number variants (CNVs) affecting the neurexin 1 (NRXN1) gene have been found in a subgroup of patients with schizophrenia (SZ). NRXN1 expression is complex, with multiple alternative splice forms generated from two major transcripts; NRXN1α and NRXN1β. The majority of CNVs in SZ are deletions affecting the proximal NRXN1α exons and promoter region. Rare chromosomal events are useful in understanding the genetic basis of complex psychiatric disorders since affected genes become feasible targets to analyze for more subtle genetic alterations. As a first step towards this goal, we resequenced the NRXN1α promoter region in 170 patients with SZ and a similar number of controls. Two rare mutations were identified in the patient population. One previously unknown single nucleotide polymorphism (SNP) was found in controls. Bioinformatics analysis suggests that binding to several transcription factors may be affected by the minor alleles. The findings suggest that in addition to chromosomal alterations disrupting the NRXN1α promoter, rare point mutations in the region may also be involved in SZ pathogenesis.

Original languageEnglish (US)
Pages (from-to)80-84
Number of pages5
JournalNeuroscience Letters
Issue number2
StatePublished - May 2010


  • Autism
  • Bipolar disorder
  • CNV
  • Copy variant
  • Neurexin
  • Schizophrenia

ASJC Scopus subject areas

  • Neuroscience(all)


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