ArticleProceedings of the National Academy of Sciences of the United States of America2014
Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed.
- Observational
- CellPHIE: Integrating Pathway Discovery With Pooled Profiling of Perturbations Uncovers Pathways of Huntington's Disease, Including Genetic Modifiers of Neuronal Development and Morphology.bioRxiv : the preprint server for biology · 2025Article
- Structural and molecular basis of PCNA-activated FAN1 nuclease function in DNA repair.Nature communications · 2025Article
- Evaluation of DNA repair capacity in parents of pediatric patients diagnosed with autism spectrum disorder using the comet assay procedure.IBRO neuroscience reports · 2023Article
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.Molecular psychiatry · 2023Article
- Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.Scientific reports · 2022Article
- Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biological psychiatry · 2021Article
- FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.Journal of Huntington's disease · 2021Review
- Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.Journal of epilepsy research · 2020Article
- Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia.BMC psychiatry · 2020Article
- CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations.Frontiers in psychiatry · 2020Article
- Genetic Mapping of Climbing and Mimicry: Two Behavioral Traits Degraded During Silkworm Domestication.Frontiers in genetics · 2020Article
- Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies.American journal of human genetics · 2019Article
- Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.Molecular cytogenetics · 2019Article
- Structural mechanism of DNA interstrand cross-link unhooking by the bacterial FAN1 nuclease.The Journal of biological chemistry · 2018Article
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.American journal of human genetics · 2018Article
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
- A Zoom-Focus algorithm (ZFA) to locate the optimal testing region for rare variant association tests.Bioinformatics (Oxford, England) · 2017Article
- High-resolution copy number variation analysis of schizophrenia in Japan.Molecular psychiatry · 2017Article
- An Intrinsic Transcriptional Program Underlying Synaptic Scaling during Activity Suppression.Cell reports · 2017Article
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7 authors.
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Abstract
We used a family-based cluster detection approach designed to localize significant rare disease-risk variants clusters within a region of interest to systematically search for schizophrenia (SCZ) susceptibility genes within 49 genomic loci previously implicated by de novo copy number variants. Using two independent whole-exome sequencing family datasets and a follow-up autism spectrum disorder (ASD) case/control whole-exome sequencing dataset, we identified variants in one gene, Fanconi-associated nuclease 1 (FAN1), as being associated with both SCZ and ASD. FAN1 is located in a region on chromosome 15q13.3 implicated by a recurrent copy number variant, which predisposes to an array of psychiatric and neurodevelopmental phenotypes. In both SCZ and ASD datasets, rare nonsynonymous risk variants cluster significantly in affected individuals within a 20-kb window that spans several key functional domains of the gene. Our finding suggests that FAN1 is a key driver in the 15q13.3 locus for the associated psychiatric and neurodevelopmental phenotypes. FAN1 encodes a DNA repair enzyme, thus implicating abnormalities in DNA repair in the susceptibility to SCZ or ASD.
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