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Annotation

Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell . 2012 Apr 27 ; 149(3):525-37. PubMed Abstract

Comments on Paper and Primary News
Primary News: Chromosomal Mishaps in Autism Harbor Schizophrenia Candidate Genes

Comment by:  Ben Pickard
Submitted 23 May 2012 Posted 24 May 2012

The paper by Talkowski and colleagues describes the application of cutting edge genomics techniques to the molecular characterisation of multiple balanced chromosomal abnormalities (BCAs) linked to autism, autism spectrum disorders, and general neurodevelopmental disorders. In a single publication it has probably assigned more candidate genes than the entire conventional cytogenetic output from schizophrenia and autism in the preceding 15 years.

The authors carry out a great deal of complementary genomic analyses which add to the strength of their argument that these genes are indeed causally involved in illness. Without these additional data there would be one potential criticism of the paper in that the same power of analysis was not applied to BCAs in healthy controls. This is an important ascertainment issue because previous studies have not only identified disrupted genes in the healthy population (Baptista et al., 2005) but also shown that CNVs deregulating specific genes may only show an increased—as opposed to...  Read more


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Primary News: Chromosomal Mishaps in Autism Harbor Schizophrenia Candidate Genes

Comment by:  Patrick Sullivan, SRF AdvisorJin Szatkiewicz
Submitted 29 May 2012 Posted 29 May 2012
  I recommend this paper

In this exceptional paper, the authors combined new technology with old-school genomics to deliver convergent data about the genomic regions that predispose to neuropsychiatric disorders. The first goal of psychiatric genetics is to identify the “parts list,” an enumeration of the genes and genetic loci whose alteration clearly and unequivocally alters risk. The results of this intriguing paper connect rare and powerful genomic disruptions with loci identified via common variant genomewide association screens.

A classical approach in human genetics is to study affected individuals with balanced translocations. Using next-generation sequencing, these authors identified the precise locations of 38 rare balanced chromosomal abnormalities in subjects with neurodevelopmental disorders. They identified 33 disrupted genes, of which 22 were novel risk loci for autism and neurodevelopmental disorders. The other disrupted genes included many that had previously been identified by genomic searches for rare variation and common variation (e.g., AUTS2, CHD8, TCF4, and ZNF804A)....  Read more


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Primary News: Chromosomal Mishaps in Autism Harbor Schizophrenia Candidate Genes

Comment by:  Bernard Crespi
Submitted 29 May 2012 Posted 29 May 2012
  I recommend this paper

Balanced chromosomal abnormalities (BCAs) provide extremely useful alterations for linking of specific loci with psychiatric conditions, because they exert penetrant effects and localize to specific genes. The recent study by Talkowski et al. (2012) used direct sequencing of breakpoints, based on 38 subjects, to generate a set of genes with putative links to different neurodevelopmental disorders, broadly construed as including autism spectrum disorders, intellectual disability, and/or developmental and other delays.

One of the most striking results from their study was the presence, in their set of breakpoint-altered genes, of five genes that have been associated from other work with schizophrenia and related psychotic-affective spectrum disorders (such as bipolar disorder and major depression), including TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3. These results suggest, according to the authors, the presence of shared genetic etiology for ASD, schizophrenia, and other neurodevelopmental disorders (mainly developmental delays). The authors also show overlap of their gene...  Read more


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