ArticleMolecular psychiatry2017
Rare deleterious mutations are associated with disease in bipolar disorder families.
Article in Molecular psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.Psychiatry and clinical neurosciences · 2025Article
- Investigation of Genetic Changes in Three Families with Bipolar Disease.Molecular syndromology · 2024Article
- Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.Molecular psychiatry · 2023Article
- The Current Progress of Psychiatric Genomics.Juntendo Iji zasshi = Juntendo medical journal · 2022Review
- The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.Scientific reports · 2021Article
- Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.Nature communications · 2021Article
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
- The Role of Genetics in Bipolar Disorder.Current topics in behavioral neurosciences · 2021Article
- Translational genomics and beyond in bipolar disorder.Molecular psychiatry · 2021Review
- A Novel CosegregatingGenes · 2020Article
- Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.Translational psychiatry · 2020Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.Psychiatry and clinical neurosciences · 2019Article
- Whole Exome Sequencing Identifies a Novel Predisposing Gene, MAPKAP1, for Familial Mixed Mood Disorder.Frontiers in genetics · 2019Article
- An examination of multiple classes of rare variants in extended families with bipolar disorder.Translational psychiatry · 2018Article
- Article
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
- Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.JCI insight · 2017Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Bipolar disorder (BD) is a common, complex and heritable psychiatric disorder characterized by episodes of severe mood swings. The identification of rare, damaging genomic mutations in families with BD could inform about disease mechanisms and lead to new therapeutic interventions. To determine whether rare, damaging mutations shared identity-by-descent in families with BD could be associated with disease, exome sequencing was performed in multigenerational families of the NIMH BD Family Study followed by in silico functional prediction. Disease association and disease specificity was determined using 5090 exomes from the Sweden-Schizophrenia (SZ) Population-Based Case-Control Exome Sequencing study. We identified 14 rare and likely deleterious mutations in 14 genes that were shared identity-by-descent among affected family members. The variants were associated with BD (P<0.05 after Bonferroni's correction) and disease specificity was supported by the absence of the mutations in patients with SZ. In addition, we found rare, functional mutations in known causal genes for neuropsychiatric disorders including holoprosencephaly and epilepsy. Our results demonstrate that exome sequencing in multigenerational families with BD is effective in identifying rare genomic variants of potential clinical relevance and also disease modifiers related to coexisting medical conditions. Replication of our results and experimental validation are required before disease causation could be assumed.
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