Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Noortje WA Van de Kerkhof,1 Ilse Feenstra,2 Jos IM Egger,1,3,4 Nicole de Leeuw,2 Rolph Pfundt,2 Gerald St&ouml;ber,5 Frank MMA van der Heijden,1 Willem MA Verhoeven1,61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 2Radboud Unive...

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Autores principales:	Van de Kerkhof NW, Feenstra I, van der Heijden FM,&nbsp; De Leeuw N, Pfundt R, St&ouml;ber G, Egger JI, Verhoeven WM
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2012
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/d281e501daf24a47a322ed6059308933
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spelling	oai:doaj.org-article:d281e501daf24a47a322ed60593089332021-12-02T05:02:24ZCopy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?1176-63281178-2021https://doaj.org/article/d281e501daf24a47a322ed60593089332012-07-01T00:00:00Zhttp://www.dovepress.com/copy-number-variants-in-a-sample-of-patients-with-psychotic-disorders--a10380https://doaj.org/toc/1176-6328https://doaj.org/toc/1178-2021Noortje WA Van de Kerkhof,1 Ilse Feenstra,2 Jos IM Egger,1,3,4 Nicole de Leeuw,2 Rolph Pfundt,2 Gerald St&ouml;ber,5 Frank MMA van der Heijden,1 Willem MA Verhoeven1,61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 2Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands; 3Donders Institute for Brain, Cognition and Behaviour, 4Behavioural Science Institute, Radboud University, Nijmegen, The Netherlands; 5University of W&uuml;rzburg, Department of Psychiatry, Psychosomatics and Psychotherapy, W&uuml;rzburg, Germany; 6Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, The NetherlandsAbstract: With the introduction of new genetic techniques such as genome-wide array comparative genomic hybridization, studies on the putative genetic etiology of schizophrenia have focused on the detection of copy number variants (CNVs), ie, microdeletions and/or microduplications, that are estimated to be present in up to 3% of patients with schizophrenia. In this study, out of a sample of 100 patients with psychotic disorders, 80 were investigated by array for the presence of CNVs. The assessment of the severity of psychiatric symptoms was performed using standardized instruments and ICD-10 was applied for diagnostic classification. In three patients, a submicroscopic CNV was demonstrated, one with a loss in 1q21.1 and two with a gain in 1p13.3 and 7q11.2, respectively. The association between these or other CNVs and schizophrenia or schizophrenia-like psychoses and their clinical implications still remain equivocal. While the CNV affected genes may enhance the vulnerability for psychiatric disorders via effects on neuronal architecture, these insights have not resulted in major changes in clinical practice as yet. Therefore, genome-wide array analysis should presently be restricted to those patients in whom psychotic symptoms are paired with other signs, particularly dysmorphisms and intellectual impairment.Keywords: schizophrenia, psychotic disorders, microarray, copy number variants, 1q21, 7q11.2, 1p13.3&nbsp;Van de Kerkhof NWFeenstra Ivan der Heijden FM,&nbsp; De Leeuw NPfundt RSt&ouml;ber GEgger JIVerhoeven WMDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2012, Iss default, Pp 295-300 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Van de Kerkhof NW Feenstra I van der Heijden FM,&nbsp; De Leeuw N Pfundt R St&ouml;ber G Egger JI Verhoeven WM Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
description	Noortje WA Van de Kerkhof,1 Ilse Feenstra,2 Jos IM Egger,1,3,4 Nicole de Leeuw,2 Rolph Pfundt,2 Gerald St&ouml;ber,5 Frank MMA van der Heijden,1 Willem MA Verhoeven1,61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 2Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands; 3Donders Institute for Brain, Cognition and Behaviour, 4Behavioural Science Institute, Radboud University, Nijmegen, The Netherlands; 5University of W&uuml;rzburg, Department of Psychiatry, Psychosomatics and Psychotherapy, W&uuml;rzburg, Germany; 6Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, The NetherlandsAbstract: With the introduction of new genetic techniques such as genome-wide array comparative genomic hybridization, studies on the putative genetic etiology of schizophrenia have focused on the detection of copy number variants (CNVs), ie, microdeletions and/or microduplications, that are estimated to be present in up to 3% of patients with schizophrenia. In this study, out of a sample of 100 patients with psychotic disorders, 80 were investigated by array for the presence of CNVs. The assessment of the severity of psychiatric symptoms was performed using standardized instruments and ICD-10 was applied for diagnostic classification. In three patients, a submicroscopic CNV was demonstrated, one with a loss in 1q21.1 and two with a gain in 1p13.3 and 7q11.2, respectively. The association between these or other CNVs and schizophrenia or schizophrenia-like psychoses and their clinical implications still remain equivocal. While the CNV affected genes may enhance the vulnerability for psychiatric disorders via effects on neuronal architecture, these insights have not resulted in major changes in clinical practice as yet. Therefore, genome-wide array analysis should presently be restricted to those patients in whom psychotic symptoms are paired with other signs, particularly dysmorphisms and intellectual impairment.Keywords: schizophrenia, psychotic disorders, microarray, copy number variants, 1q21, 7q11.2, 1p13.3&nbsp;
format	article
author	Van de Kerkhof NW Feenstra I van der Heijden FM,&nbsp; De Leeuw N Pfundt R St&ouml;ber G Egger JI Verhoeven WM
author_facet	Van de Kerkhof NW Feenstra I van der Heijden FM,&nbsp; De Leeuw N Pfundt R St&ouml;ber G Egger JI Verhoeven WM
author_sort	Van de Kerkhof NW
title	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
title_short	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
title_full	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
title_fullStr	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
title_full_unstemmed	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
title_sort	copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
publisher	Dove Medical Press
publishDate	2012
url	https://doaj.org/article/d281e501daf24a47a322ed6059308933
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Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

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