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Updated: Oct 20, 2025
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
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Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations.
Elliott Rees1, Hugo D J Creeth1, Hai-Gwo Hwu2
1MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Nature Communications
|September 10, 2021
Summary
Schizophrenia shares genetic roots with neurodevelopmental disorders like autism and intellectual disability. Specific genetic variants linked to these conditions increase schizophrenia risk, suggesting a shared underlying cause.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Schizophrenia is linked to rare genetic variants in neurodevelopmental disorder genes.
- The functional impact of these shared variants on schizophrenia risk is not fully understood.
Purpose of the Study:
- To investigate if gene variants increasing neurodevelopmental disorder risk also elevate schizophrenia risk.
- To explore the shared molecular etiology and pathophysiology between schizophrenia and neurodevelopmental disorders.
Main Methods:
- Analysis of de novo variants in 3,444 schizophrenia trios and 37,488 neurodevelopmental disorder trios.
- Comparison of functional categories of de novo variants within shared risk genes.
Main Results:
- De novo variants in shared risk genes for schizophrenia and neurodevelopmental disorders are functionally similar.
- Variants previously linked to neurodevelopmental disorders are enriched in schizophrenia cases (P = 5.0 × 10⁻⁶).
- Pathogenic variants for syndromic disorders were found to be enriched in schizophrenia.
Conclusions:
- Schizophrenia and neurodevelopmental disorders share a partial molecular etiology and overlapping pathophysiology.
- Findings support the continuum hypothesis, suggesting some schizophrenia forms are part of a neurodevelopmental disorder spectrum.
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