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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 408444.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Authors:Kirov, George; Gumus, Dilihan; Chen, Wei; Norton, Nadine; Georgieva, Lyudmila; Sari, Murat; O’Donovan, Michael C.; Erdogan, Fikret; Owen, Michael J.; Ropers, Hans-Hilger; Ullmann, Reinhard
Language:English
Date of Publication (YYYY-MM-DD):2008-03-01
Title of Journal:Human Molecular Genetics
Volume:17
Issue / Number:3
Start Page:458
End Page:465
Copyright:© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Review Status:not specified
Audience:Experts Only
Abstract / Description:Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders. We sought to determine the relevance of CNVs to the aetiology of schizophrenia (SZ). Whole-genome, high-resolution, tiling path BAC array comparative genomic hybridization (array CGH) was employed to test DNA from 93 individuals with DSM-IV SZ. Common DNA copy number changes that are unlikely to be directly pathogenic in SZ were filtered out by comparison to a reference dataset of 372 control individuals analyzed in our laboratory, and a screen against the Database of Genomic Variants. The remaining aberrations were validated with Affymetrix 250K SNP arrays or 244K Agilent oligo-arrays and tested for inheritance from the parents. A total of 13 aberrations satisfied our criteria. Two of them are very likely to be pathogenic. The first one is a deletion at 2p16.3 that was present in an affected sibling and disrupts NRXN1. The second one is a de novo duplication at 15q13.1 spanning APBA2. The proteins of these two genes interact directly and play a role in synaptic development and function. Both genes have been affected by CNVs in patients with autism and mental retardation, but neither has been previously implicated in SZ.
Comment of the Author/Creator:To whom correspondence should be addressed:
Tel: +44 2920743058; Fax: +44 2920746554; Email: owenmj@cardiff.ac.uk
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1. Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK.
Identifiers:URL:http://hmg.oxfordjournals.org/cgi/content/full/17/...
DOI:10.1093/hmg/ddm323
ISSN:1460-2083
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