{"doi":"10.1093/hmg/ddm323","title":"Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia","abstract":"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.","journal":"Human Molecular Genetics","year":2007,"id":11474,"datarank":0.8918130912909864,"base_score":5.945420608606575,"endowment":5.945420608606575,"self_citation_contribution":0.8918130912909864,"citation_network_contribution":0.0,"self_endowment_contribution":0.8918130912909864,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":381,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0621,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2007-10-03","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":91965,"name":"D. Gumus","orcid":null,"position":1,"is_corresponding":false},{"id":87269,"name":"Ivan Nikolov","orcid":null,"position":3,"is_corresponding":false},{"id":87251,"name":"L. Georgieva","orcid":null,"position":4,"is_corresponding":false},{"id":91968,"name":"M. Sari","orcid":null,"position":5,"is_corresponding":false},{"id":20762,"name":"F. Erdogan","orcid":null,"position":7,"is_corresponding":false},{"id":1099,"name":"Lorena Orozco","orcid":"0000-0002-5801-9180","position":8,"is_corresponding":false},{"id":91969,"name":"H.-H. Ropers","orcid":null,"position":9,"is_corresponding":false},{"id":91970,"name":"R. Ullmann","orcid":null,"position":10,"is_corresponding":false},{"id":21900,"name":"Manfred Kayser","orcid":"0000-0002-4958-847X","position":11,"is_corresponding":false},{"id":91971,"name":"Dilihan Gumus","orcid":null,"position":12,"is_corresponding":false},{"id":4578,"name":"Wei Chen","orcid":"0000-0002-1347-3718","position":13,"is_corresponding":false},{"id":91972,"name":"Nadine Norton","orcid":"0000-0002-3848-4288","position":14,"is_corresponding":false},{"id":91973,"name":"Murat Sarı","orcid":"0000-0003-0508-2917","position":15,"is_corresponding":false},{"id":1159,"name":"Michael C O'Donovan","orcid":"0000-0001-7073-2379","position":16,"is_corresponding":false},{"id":91974,"name":"Fikret Erdogan","orcid":null,"position":17,"is_corresponding":false},{"id":1100,"name":"Michael J. Owen","orcid":"0000-0003-4798-0862","position":18,"is_corresponding":false},{"id":91975,"name":"Reinhard Ullmann","orcid":null,"position":19,"is_corresponding":false},{"id":5333,"name":"Kenneth S. Kendler","orcid":"0000-0001-8689-6570","position":0,"is_corresponding":true}],"reference_count":58,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}