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De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention

Julie Gauthier12 and Guy A Rouleau123*

Author Affiliations

1 Center of Excellence in Neuroscience of the Université de Montréal , Quebec, Canada H2L 4MI

2 Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Quebec, Canada H2L 4MI

3 Department of Medicine, Université de Montréal, Quebec, Canada H2L 4MI

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Genome Medicine 2012, 4:71  doi:10.1186/gm372

Published: 25 September 2012


Neurological and psychiatric disorders account for a considerable proportion of the global disease burden. Although there is a high heritability and a significant genetic component in these disorders, the genetic cause of most cases has yet to be identified. Advances in DNA sequencing allowing the analysis of the whole human genome in a single experiment have led to an acceleration of the discovery of the genetic factors associated with human disease. Recent studies using these platforms have highlighted the important role of de novo mutations in neurological and psychiatric disorders. These findings have opened new avenues into the understanding of genetic disease mechanisms. These discoveries, combined with the increasing ease with which we can sequence the human genome, have important implications for diagnosis, prevention and treatment. Here, we present an overview of the recent discovery of de novo mutations using key examples of neurological and psychiatric disorders. We also discuss the impact of technological developments on diagnosis and prevention.