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bioRxiv · 10.1101/596213

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

Sriretnakumar, V.·Zai, C. C.·Wasim, S.·Barsanti-Innes, B.·Kennedy, J. L.·So, J.
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Abstract

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.

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Sriretnakumar, V., Zai, C. C., Wasim, S., Barsanti-Innes, B., Kennedy, J. L., So, J.. 2019-04-02. Copy number variant syndromes are frequent in schizophrenia: progressing towards a CNV-schizophrenia model. https://doi.org/10.1101/596213

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