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Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

Medicine and Health

Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

E. Rees, H. D. J. Creeth, et al.

This groundbreaking research by Elliott Rees and colleagues reveals that schizophrenia shares molecular and pathophysiological underpinnings with neurodevelopmental disorders. By analyzing genomic data from thousands of trios, the study uncovers striking similarities in functional genetic variants, suggesting a continuum between schizophrenia and other developmental conditions. Discover how this work may reshape our understanding of these complex disorders.

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Playback language: English
Abstract
People with schizophrenia are enriched for rare coding variants in genes associated with neurodevelopmental disorders, particularly autism spectrum disorders and intellectual disability. However, it is unclear if the same changes to gene function that increase risk to neurodevelopmental disorders also do so for schizophrenia. Using data from 3444 schizophrenia trios and 37,488 neurodevelopmental disorder trios, we show that within shared risk genes, de novo variants in schizophrenia and neurodevelopmental disorders are generally of the same functional category, and that specific de novo variants observed in neurodevelopmental disorders are enriched in schizophrenia (P = 5.0 × 10⁻⁶). The latter includes variants known to be pathogenic for syndromic disorders, suggesting that schizophrenia be included as a characteristic of those syndromes. Our findings imply that, in part, neurodevelopmental disorders and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology, and support the hypothesis that at least some forms of schizophrenia lie on a continuum of neurodevelopmental disorders.
Publisher
Nature Communications
Published On
Sep 09, 2021
Authors
Elliott Rees, Hugo D. J. Creeth, Hai-Gwo Hwu, Wei J. Chen, Ming Tsuang, Stephen J. Glatt, Romain Rey, George Kirov, James T. R. Walters, Peter Holmans, Michael J. Owen, Michael C. O'Donovan
Tags
schizophrenia
neurodevelopmental disorders
genetic variants
de novo mutations
autism spectrum disorders
intellectual disability
pathophysiology
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