Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model

Schizophr Res. 2019 Jul;209:171-178. doi: 10.1016/j.schres.2019.04.026. Epub 2019 May 10.


The genetic underpinnings of schizophrenia (SCZ) remain unclear. SCZ genetic studies thus far have only identified numerous single nucleotide polymorphisms with small effect sizes and a handful of copy number variants (CNVs). This study investigates the prevalence of well-characterized CNV syndromes and candidate CNVs within a cohort of 348 SCZ patients, and explores correlations to their phenotypic findings. There was an enrichment of syndromic CNVs in the cohort, as well as brain-related and immune pathway genes within the detected CNVs. SCZ patients with brain-related CNVs had increased CNV burden, neurodevelopmental features, and types of hallucinations. Based on these results, we propose a CNV-SCZ model wherein specific phenotypic profiles should be prioritized for CNV screening within the SCZ patient population.

Keywords: Brain gene; CNV burden; Hallucination; Immune gene; Neurodevelopment; Phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / physiopathology*
  • DNA Copy Number Variations*
  • Female
  • Hallucinations / genetics*
  • Hallucinations / physiopathology
  • Humans
  • Male
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / physiopathology
  • Retrospective Studies
  • Schizophrenia / genetics*
  • Schizophrenia / physiopathology
  • Syndrome