Chromosomal Aberrations and Schizophrenia

Bassett, Anne S.

doi:10.1192/bjp.161.3.323

Cited by 83 publications

(17 citation statements)

References 56 publications

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“…Consistent with early reports of the association of schizophrenia with rare microscopically visible chromosomal abnormalities156 and the established association with 22q11.2 deletions,43,66,67,69 there is now substantial evidence for the importance of diverse rare structural variants in causing schizophrenia 3,5. These structural variants are mainly comprised of specific examples of large (eg, >500 kb) CNV that are consistently enriched in schizophrenia samples, and absent or extremely uncommon (ie, “rare”) in control populations.…”

Section: Schizophrenia In the Molecular Agesupporting

confidence: 89%

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Costain¹,

Bassett²

2012

TACG

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Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently been concrete progress in understanding some of the specific genetic causes of this serious psychiatric illness. In particular, several large rare structural variants have been convincingly associated with schizophrenia, in targeted studies over two decades with respect to 22q11.2 microdeletions, and more recently in large-scale, genome-wide case-control studies. These advances promise to help many families afflicted with this disease. In this review, we critically appraise recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability. Much work remains in translating the recent surge of genetic research discoveries into the clinic. The epidemiology and basic genetic parameters (such as penetrance and expression) of most genomic disorders associated with schizophrenia are not yet well characterized. To date, 22q11.2 deletion syndrome is the only established genetic subtype of schizophrenia of proven clinical relevance. We use this well-established association as a model to chart the pathway for translating emerging genetic discoveries into clinical practice. We also propose new directions for research involving general genetic risk prediction and counseling in schizophrenia.

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Section: Schizophrenia In the Molecular Agesupporting

confidence: 89%

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Costain¹,

Bassett²

2012

TACG

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“…The finding of fragile sites on chromosomes 3, 9, 17, 18, and 19 in schizophrenic patients is described in a review by Bassett (1992). Moreover, Garofalo et al (1992Garofalo et al ( , 1993 reported a significantly higher presence of rare fragile sites at chromosomal regions 9p21 and 10q21 in metaphase lymphocytes of schizophrenic patients than in the control group.…”

Section: Introductionmentioning

confidence: 90%

Chromosomal fragile site expression in lymphocytes from patients with schizophrenia

Chen¹,

Shih²,

Wang-Wuu³

et al. 1998

Human Genetics

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Schizophrenia is a common complex mental disorder. The lifetime prevalence of this disease is about 1% across different populations. The etiology is still unknown despite decades of intensive study. This report is aimed at studying the relationship between chromosomal fragile sites and the etiology of schizophrenia. Lymphocytes of 72 schizophrenic patients and 66 healthy controls were cultured in M medium, which is deficient in folic acid, and in medium RPMI 1640 with distamycin A. G-banding was carried out on 100 metaphases of each individual. Fragile sites were characterized as specific chromosomal bands that exhibit nonrandom gaps or breaks. Culture in M medium resulted in significant differences in the total number of chromosomal lesions and the total number of cells with chromosomal lesions between patients and controls (P<0.001), while no difference was noted after exposure to distamycin A. In the case of M medium, 17 bands in both patients and controls were recognized as expressing fragile sites nonrandomly using a statistical method based on the relationship of the binomial and F distributions. Further analysis using Fisher's exact test revealed a significant excess of expression of a rare fragile site at 2q11.2 among patients compared with controls (P<0.05). In the case of distamycin A induction, 13 bands were identified as having nonrandom expression of fragile sites using the same statistical method. A significant excess expression of a fragile site at 9q12 was identified among patients compared with controls by applying Fisher's exact test (P<0.001). Thus, our data suggest that chromosomal bands 2q11.2 and 9q12 are interesting regions that may harbor important genes associated with schizophrenia.

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“…Many susceptibility loci for schizophrenia were identified. Significance levels for linkage to schizophrenia were obtained for chromosome regions 6p24-p22 [52], 1q21-q22 [43], 13q32-q34 [53], 10p14 [54], 10q25.3-q26.3 [55], 8p22-p21 [53,56], 6q21-q25 [57,58], 22q11-q12 [59,60] and 5q21-q33 [61,62]. A further susceptibility locus was identified on the short arm of chromosome 20 (20p) [63,64].…”

Section: Introductionmentioning

confidence: 99%

Deletion of PLCB1 gene in schizophrenia‐affected patients

Vasco

Cardinale

Polonia

2012

J Cellular Molecular Medi

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A prevalence of 1% in the general population and approximately 50% concordance rate in monozygotic twins was reported for schizophrenia, suggesting that genetic predisposition affecting neurodevelopmental processes might combine with environmental risk factors. A multitude of pathways seems to be involved in the aetiology and/or pathogenesis of schizophrenia, including dopaminergic, serotoninergic, muscarinic and glutamatergic signalling. The phosphoinositide signal transduction system and related phosphoinositide-specific phospholipase C (PI-PLC) enzymes seem to represent a point of convergence in these networking pathways during the development of selected brain regions. The existence of a susceptibility locus on the short arm of chromosome 20 moved us to analyse PLCB1, the gene codifying for PI-PLC β1 enzyme, which maps on 20p12. By using interphase fluorescent in situ hybridization methodology, we found deletions of PLCB1 in orbito-frontal cortex samples of schizophrenia-affected patients.

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Chromosomal Aberrations and Schizophrenia

Cited by 83 publications

References 56 publications

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Chromosomal fragile site expression in lymphocytes from patients with schizophrenia

Deletion of PLCB1 gene in schizophrenia‐affected patients

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