Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

Sebat, J., Levy, D. L., McCarthy, S. E. (October 2009) Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet.

URL: http://www.ncbi.nlm.nih.gov/pubmed/19883952
DOI: 10.1016/j.tig.2009.10.004

Abstract

Recent studies have established an important role for rare genomic deletions and duplications in the etiology of schizophrenia. This research suggests that the genetic architecture of neuropsychiatric disorders includes a constellation of rare mutations in many different genes. Mutations that confer substantial risk for schizophrenia have been identified at several loci, most of which have also been implicated in other neurodevelopmental disorders, including autism. Genetic heterogeneity is a characteristic of schizophrenia; conversely, phenotypic heterogeneity is a characteristic of all schizophrenia-associated mutations. Both kinds of heterogeneity probably reflect the complexity of neurodevelopment. Research strategies must account for both genetic and clinical heterogeneity to identify the genes and pathways crucial for the development of neuropsychiatric disorders.

Item Type: Paper
Subjects: bioinformatics
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
diseases & disorders > mental disorders
diseases & disorders > mental disorders > schizophrenia
diseases & disorders > mental disorders > genetic disorders
CSHL Authors:
Communities: CSHL labs > Sebat lab
Depositing User: Matt Covey
Date: 31 October 2009
Date Deposited: 20 Feb 2013 15:46
Last Modified: 20 Feb 2013 15:46
PMCID: PMC3351381
Related URLs:
URI: http://repository.cshl.edu/id/eprint/27438

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