High rate of disease-related copy number variations in childhood onset schizophrenia

K. Ahn, N. Gotay, T. M. Andersen, A. A. Anvari, P. Gochman, Y. Lee, S. Sanders, S. Guha, A. Darvasi, J. T. Glessner, H. Hakonarson, T. Lencz, M. W. State, Y. Y. Shugart, J. L. Rapoport

Research output: Contribution to journalArticlepeer-review

80 Scopus citations


Copy number variants (CNVs) are risk factors in neurodevelopmental disorders, including autism, epilepsy, intellectual disability (ID) and schizophrenia. Childhood onset schizophrenia (COS), defined as onset before the age of 13 years, is a rare and severe form of the disorder, with more striking array of prepsychotic developmental disorders and abnormalities in brain development. Because of the well-known phenotypic variability associated with pathogenic CNVs, we conducted whole genome genotyping to detect CNVs and then focused on a group of 46 rare CNVs that had well-documented risk for adult onset schizophrenia (AOS), autism, epilepsy and/or ID. We evaluated 126 COS probands, 69 of which also had a healthy full sibling. When COS probands were compared with their matched related controls, significantly more affected individuals carried disease-related CNVs (P=0.017). Moreover, COS probands showed a higher rate than that found in AOS probands (P

Original languageEnglish (US)
Pages (from-to)568-572
Number of pages5
JournalMolecular Psychiatry
Issue number5
StatePublished - 2014
Externally publishedYes


  • CNV
  • genetics
  • neurodevelopment
  • schizophrenia

ASJC Scopus subject areas

  • Molecular Biology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience
  • Medicine(all)


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