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Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, Levy S, Gogos JA, Karayiorgou M. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet . 2011 Sep ; 43(9):864-8. PubMed Abstract

Comments on Paper and Primary News
Comment by:  Bryan Roth, SRF Advisor
Submitted 15 August 2011 Posted 16 August 2011
  I recommend this paper

This is the first report of exome sequencing of sporadic cases of schizophrenia and for that reason is interesting. There are likely to be many more of these sorts of papers appearing over the next few months, and it will be informative to compare and tabulate the results once they are available.

Of most interest to me was that none of the reported de novo mutations was replicated among any of the individuals sequenced, indicating that if these de novo mutations in the exome are pathogenic for schizophrenia, the genetic landscape is vastly more complex than previously imagined.

View all comments by Bryan Roth

Comment by:  Patrick Sullivan, SRF AdvisorJin Szatkiewicz
Submitted 21 August 2011 Posted 23 August 2011

Xu et al. (2011) tested the hypothesis that de-novo exon mutations play a major role in schizophrenia by sequencing the exomes of 53 sporadic case trios and 22 unaffected control trios. The experimental procedures for mutation identification were well done technically. However, a number of issues deserve closer consideration.

First, a major study design in human genetics is the evaluation of pedigrees densely affected with a disease under the assumption that etiological variants are more likely to segregate in these so-called multiplex pedigrees. Xu et al. took a very different approach by studying schizophrenia cases with no history of schizophrenia or schizoaffective disorder in their first- or second-degree relatives. Their assumption is that a deterministic exonic mutation occurred that was necessary and sufficient for the development of schizophrenia. In effect, the assumption is that these cases represent different Mendelian forms of schizophrenia. Moreover, as cases are heterozygous for the de-novo mutations, the authors make the fairly strong assumption that the...  Read more

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