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The genetic architecture of neurodevelopmental disorders

Kevin J. Mitchell
doi: https://doi.org/10.1101/009449
Kevin J. Mitchell
Institute of Genetics and Institute of Neuroscience, Trinity College Dublin, Dublin 2, Ireland
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Abstract

Neurodevelopmental disorders include rare conditions caused by identified single mutations, such as Fragile X, Down and Angelman syndromes, and much more common clinical categories such as autism, epilepsy and schizophrenia. These common conditions are all highly heritable but their genetics is considered to be “complex”. In fact, this sharp dichotomy in genetic architecture between rare and common disorders may be largely artificial. On the one hand, much of the apparent complexity in the genetics of common disorders may derive from underlying genetic heterogeneity, which has remained obscure until recently. On the other hand, even for supposedly Mendelian conditions, the relationship between single mutations and clinical phenotypes is rarely simple. The categories of monogenic and complex disorders may therefore merge across a continuum, with some mutations being strongly associated with specific syndromes and others having a more variable outcome, modified by the presence of additional genetic variants.

Footnotes

  • To appear in: The Genetics of Neurodevelopmental Disorders (Wiley) Edited by Kevin J. Mitchell http://eu.wiley.com/WileyCDA/WileyTitle/productCd-1118524888.html

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted September 19, 2014.
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The genetic architecture of neurodevelopmental disorders
Kevin J. Mitchell
bioRxiv 009449; doi: https://doi.org/10.1101/009449
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The genetic architecture of neurodevelopmental disorders
Kevin J. Mitchell
bioRxiv 009449; doi: https://doi.org/10.1101/009449

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