TY  - JOUR
A1  - Van de Kerkhof, Noortje W. A.
A1  - Feenstra, Ilse
A1  - van der Heijden, Frank M. M. A.
A1  - de Leeuw, Nicole
A1  - Pfundt, Rolph
A1  - Stöber, Gerald
A1  - Egger, Jos I. M.
A1  - Verhoeven, Willem M. A.
T1  - Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?
JF  - Neuropsychiatric Disease and Treatment
N2  - 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.
KW  - microarrays
KW  - spectrum disorders
KW  - schizophrenia
KW  - gene
KW  - psychopathology
KW  - polymorphisms
KW  - microdeletion
KW  - perspectives
KW  - association
KW  - environment
KW  - copy number variants
KW  - 1q21
KW  - 7q11.2
KW  - 1p13.3
Y1  - 2012
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-134769
VL  - 8
ER  -