ArticleThe American journal of psychiatry2011
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.
Article in The American journal of psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- Neonatal social communication and single genes predict the variability of post-pubertal social behavior in a mouse model of paternal 15q11-13 duplication.Research square · 2026Article
- Article
- Pedigree analysis and dermatoglyphic features of probands with schizophrenia and their affected gender-matched parents: A cross-sectional comparative study.Indian journal of psychiatry · 2025Article
- Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2023Article
- Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs.medRxiv : the preprint server for health sciences · 2023Article
- Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia.Journal of genetics · 2023Article
- Epigenetic control and genomic imprinting dynamics of the Dlk1-Dio3 domain.Frontiers in cell and developmental biology · 2023Review
- The contribution of imprinted genes to neurodevelopmental and neuropsychiatric disorders.Translational psychiatry · 2022Review
- Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal Testing.Frontiers in genetics · 2022Article
- An alternative splicing hypothesis for neuropathology of schizophrenia: evidence from studies on historical candidate genes and multi-omics data.Molecular psychiatry · 2022Review
- Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report.Children (Basel, Switzerland) · 2021Article
- The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.Journal of personalized medicine · 2020Article
- Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.BioMed research international · 2019Article
- Novel West syndrome candidate genes in a Chinese cohort.CNS neuroscience & therapeutics · 2018Article
- [Search for risk genes in schizophrenia].Der Nervenarzt · 2017Review
- Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.PLoS genetics · 2016Article
- New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.European journal of medical genetics · 2015Review
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Abstract
objectiveRare copy number variants have been implicated in different neurodevelopmental disorders, with the same copy number variants often increasing risk of more than one of these phenotypes. In a discovery sample of 22 schizophrenia patients with an early onset of illness (10-15 years of age), the authors observed in one patient a maternally derived 15q11-q13 duplication overlapping the Prader-Willi/Angelman syndrome critical region. This prompted investigation of the role of 15q11-q13 duplications in psychotic illness.
methodThe authors scanned 7,582 patients with schizophrenia or schizoaffective disorder and 41,370 comparison subjects without known psychiatric illness for copy number variants at 15q11-q13 and determined the parental origin of duplications using methylation-sensitive Southern hybridization analysis.
resultsDuplications were found in four case patients and five comparison subjects. All four case patients had maternally derived duplications (0.05%), while only three of the five comparison duplications were maternally derived (0.007%), resulting in a significant excess of maternally derived duplications in case patients (odds ratio=7.3). This excess is compatible with earlier observations that risk for psychosis in people with Prader-Willi syndrome caused by maternal uniparental disomy is much higher than in those caused by deletion of the paternal chromosome.
conclusionsThese findings suggest that the presence of two maternal copies of a fragment of chromosome 15q11.2-q13.1 that overlaps with the Prader-Willi/Angelman syndrome critical region may be a rare risk factor for schizophrenia and other psychoses. Given that maternal duplications of this region are among the most consistent cytogenetic observations in autism, the findings provide further support for a shared genetic etiology between autism and psychosis.
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