ArticleBMC medical genetics2011
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biological psychiatry · 2014Pooled it
- Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia.Journal of genetics · 2023Article
- Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.Molecular psychiatry · 2022Article
- Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
- Genetic Effects of the Schizophrenia-Related GeneFrontiers in genetics · 2021Article
- The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.Journal of personalized medicine · 2020Article
- Dysregulation of schizophrenia-related aquaporin 3 through disruption of paranode influences neuronal viability.Journal of neurochemistry · 2018Article
- Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.Human mutation · 2018Article
- A Novel Relationship for Schizophrenia, Bipolar, and Major Depressive Disorder. Part 8: a Hint from Chromosome 8 High Density Association Screen.Molecular neurobiology · 2017Article
- Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.Genome medicine · 2017Article
- Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.Journal of neuroscience research · 2017Review
- Genetic and epigenetic mechanisms of epilepsy: a review.Neuropsychiatric disease and treatment · 2017Review
- Article
- The complex behavioral phenotype of 15q13.3 microdeletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.European journal of medical genetics · 2015Review
- The human clinical phenotypes of altered CHRNA7 copy number.Biochemical pharmacology · 2015Review
- Characterization of a Novel Mutation in SLC1A1 Associated with Schizophrenia.Molecular neuropsychiatry · 2015Article
- Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.Human molecular genetics · 2014Article
- CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.Human molecular genetics · 2014Article
- Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Molecular cytogenetics · 2014Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMany copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder. Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and NRXN1 and duplications of 15q11-q13 (maternal), 16p11, and 16p13.3 have the strongest association with schizophrenia. We hypothesized that cases with both schizophrenia and epilepsy would have a higher frequency of disease-associated CNVs and would represent an enriched sample for detection of other mutations associated with schizophrenia.
methodsWe used array comparative genomic hybridization (CGH) to analyze 235 individuals with both schizophrenia and epilepsy, 80 with bipolar disorder and epilepsy, and 191 controls.
resultsWe detected 10 schizophrenia plus epilepsy cases in 235 (4.3%) with the above mentioned CNVs compared to 0 in 191 controls (p = 0.003). Other likely pathological findings in schizophrenia plus epilepsy cases included 1 deletion 16p13 and 1 duplication 7q11.23 for a total of 12/235 (5.1%) while a possibly pathogenic duplication of 22q11.2 was found in one control for a total of 1 in 191 (0.5%) controls (p = 0.008). The rate of abnormality in the schizophrenia plus epilepsy of 10/235 for the more definite CNVs compares to a rate of 75/7336 for these same CNVs in a series of unselected schizophrenia cases (p = 0.0004).
conclusionWe found a statistically significant increase in the frequency of CNVs known or likely to be associated with schizophrenia in individuals with both schizophrenia and epilepsy compared to controls. We found an overall 5.1% detection rate of likely pathological findings which is the highest frequency of such findings in a series of schizophrenia patients to date. This evidence suggests that the frequency of disease-associated CNVs in patients with both schizophrenia and epilepsy is significantly higher than for unselected schizophrenia.
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