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

Rees, Elliott ORCID:, Creeth, Hugo, Hwo, Hai-Gwo, Chen, Wei J., Tsuang, Ming, Glatt, Stephen J., Rey, Romain, Kirov, George ORCID:, Walters, James ORCID:, Holmans, Peter ORCID:, Owen, Michael ORCID: and O'Donovan, Michael ORCID: 2021. Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. Nature Communications 12 , 5353. 10.1038/s41467-021-25532-4

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information: This article is licensed under a Creative Commons Attribution 4.0 International License
Publisher: Nature Research
ISSN: 2041-1723
Funders: MRC
Date of First Compliant Deposit: 6 September 2021
Date of Acceptance: 16 August 2021
Last Modified: 04 May 2023 22:16

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