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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Nature Genetics, Volume 43, No. 9, Year 2011
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Description
Despite its high heritability, a large fraction of individuals with schizophrenia do not have a family history of the disease (sporadic cases). Here we examined the possibility that rare de novo protein-altering mutations contribute to the genetic component of schizophrenia by sequencing the exomes of 53 sporadic cases, 22 unaffected controls and their parents. We identified 40 de novo mutations in 27 cases affecting 40 genes, including a potentially disruptive mutation in DGCR2, a gene located in the schizophrenia-predisposing 22q11.2 microdeletion region. A comparison to rare inherited variants indicated that the identified de novo mutations show a large excess of non-synonymous changes in schizophrenia cases, as well as a greater potential to affect protein structure and function. Our analyses suggest a major role for de novo mutations in schizophrenia as well as a large mutational target, which together provide a plausible explanation for the high global incidence and persistence of the disease. © 2011 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Xu, Bin
United States, New York
Columbia University
Roos, J. L.
South Africa, Pretoria
University of Pretoria
Dexheimer, Phillip Joseph
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Boone, Braden E.
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Plummer, Brooks
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Levy, Shawn E.
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Gogos, Joseph A.
United States, New York
Columbia University
Karayiorgou, Maria
United States, New York
Columbia University
Statistics
Citations: 483
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1038/ng.902
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics
Mental Health
Study Design
Cohort Study