ArticleNPJ schizophrenia2018
Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders.
Article in NPJ schizophrenia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- A comprehensive overview of the biological foundations of ADHD.Bioscience reports · 2026Review
- Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.Psychiatry and clinical neurosciences · 2025Article
- Single-molecule DNA analysis implicates brain mitochondria pathology in bipolar disorder.Molecular psychiatry · 2025Article
- Review
- Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins.DNA research : an international journal for rapid publication of reports on genes and genomes · 2024Article
- Whole genome sequencing study of identical twins discordant for psychosis.Translational psychiatry · 2024Article
- Activity-Dependent Transcriptional Program in NGN2+ Neurons Enriched for Genetic Risk for Brain-Related Disorders.Biological psychiatry · 2024Article
- Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.Molecular psychiatry · 2023Article
- Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.Orphanet journal of rare diseases · 2021Article
- Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.Nature communications · 2021Article
- MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.BMC medical genomics · 2021Article
- Genetic and environmental factors of schizophrenia and autism spectrum disorder: insights from twin studies.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- Article
- Somatic mutations in the human brain: implications for psychiatric research.Molecular psychiatry · 2019Review
- Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms.NeuroImage. Clinical · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monozygotic twins are assumed to have identical genomes. Based on this assumption, phenotypic discordance in monozygotic twins has been previously attributed to environmental factors. However, recent genomic studies have identified characteristic somatic mutations in monozygotic twins discordant for Darier disease, Van der Woude syndrome, and Dravet syndrome. Here, we explored somatic mutations in four pairs of monozygotic twins discordant for schizophrenia or delusional disorder. We analyzed whole exome sequence data obtained from blood samples and identified seven somatic mutations in one twin pair discordant for delusional disorder. All seven of these mutations were validated by independent amplicon sequencing, and five of them were further validated by pyrosequencing. One somatic mutation in the patient with delusional disorder showed a missense variant in ABCC9 with an allele fraction of 7.32%. Although an association between the somatic mutations and phenotypic discordance could not be established conclusively in this study, our results suggest that somatic mutations in monozygotic twins may contribute to the development of psychiatric disorders, and can serve as high-priority candidates for genetic studies.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.