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

doi:10.1038/mp.2013.59

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 journal › Article › peer-review

80 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	568-572
Number of pages	5
Journal	Molecular Psychiatry
Volume	19
Issue number	5
DOIs	https://doi.org/10.1038/mp.2013.59
State	Published - 2014
Externally published	Yes

Keywords

CNV
genetics
neurodevelopment
schizophrenia

ASJC Scopus subject areas

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

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10.1038/mp.2013.59

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title = "High rate of disease-related copy number variations in childhood onset schizophrenia",

abstract = "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",

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

year = "2014",

doi = "10.1038/mp.2013.59",

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AU - Ahn, K.

AU - Gotay, N.

AU - Andersen, T. M.

AU - Anvari, A. A.

AU - Gochman, P.

AU - Lee, Y.

AU - Sanders, S.

AU - Guha, S.

AU - Darvasi, A.

AU - Glessner, J. T.

AU - Hakonarson, H.

AU - Lencz, T.

AU - State, M. W.

AU - Shugart, Y. Y.

AU - Rapoport, J. L.

PY - 2014

Y1 - 2014

N2 - 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

AB - 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

KW - CNV

KW - genetics

KW - neurodevelopment

KW - schizophrenia

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

Abstract

Keywords

ASJC Scopus subject areas

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