The role of de novo mutations in the genetics of autism spectrum disorders

Ronemus, M., Iossifov, I., Levy, D., Wigler, M. (2014) The role of de novo mutations in the genetics of autism spectrum disorders. Nature Reviews Genetics, 15 (2). pp. 133-141.

URL: http://www.ncbi.nlm.nih.gov/pubmed/24430941
DOI: 10.1038/nrg3585

Abstract

The identification of the genetic components of autism spectrum disorders (ASDs) has advanced rapidly in recent years, particularly with the demonstration of de novo mutations as an important source of causality. We review these developments in light of genetic models for ASDs. We consider the number of genetic loci that underlie ASDs and the relative contributions from different mutational classes, and we discuss possible mechanisms by which these mutations might lead to dysfunction. We update the two-class risk genetic model for autism, especially in regard to children with high intelligence quotients.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
diseases & disorders > mental disorders > personality disorders
diseases & disorders > mental disorders > personality disorders > autism
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations
CSHL Authors:
Communities: CSHL labs > Iossifov lab
CSHL labs > Wigler lab
CSHL labs > Levy lab
Depositing User: Matt Covey
Date Deposited: 18 Feb 2014 20:33
Last Modified: 18 Feb 2014 20:33
Related URLs:
URI: http://repository.cshl.edu/id/eprint/29500

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