Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Abstract

(The American Journal of Human Genetics 87, 618–630; November 12, 2010) In the original version of this article, one grant was left out of the Acknowledgments. The corrected version of the sentence appears here: This work was funded in part by NIH grants MH074090 (D.H.L. and C.L.M.), HD064525 (D.H.L. and C.L.M.), MH081754 (CLM), MH080583 (J.G.M.), MH080129 (S.T.W.), and MH071425 (K. Stefansson). Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and SchizophreniaMoreno-De-Luca et al.The American Journal of Human GeneticsNovember 4, 2010In BriefAutism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. Full-Text PDF Open Access