ArticleEuropean journal of human genetics : EJHG2018
Regulatory variants of FOXG1 in the context of its topological domain organisation.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 28 citations in OpenAlex.
- Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1.Nature communications · 2026Article
- Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment.Nature communications · 2026Article
- Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.Human genetics · 2024Article
- Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.medRxiv : the preprint server for health sciences · 2024Article
- POSTRE: a tool to predict the pathological effects of human structural variants.Nucleic acids research · 2023Article
- Abnormal Chromatin Folding in the Molecular Pathogenesis of Epilepsy and Autism Spectrum Disorder: a Meta-synthesis with Systematic Searching.Molecular neurobiology · 2023Review
- Chromosome conformation capture approaches to investigate 3D genome architecture in Ankylosing Spondylitis.Frontiers in genetics · 2023Article
- Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.International journal of molecular sciences · 2022Review
- Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.Journal of medical genetics · 2022Article
- Identification of aFrontiers in molecular neuroscience · 2022Article
- Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.Molecular cytogenetics · 2020Article
- Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders.Frontiers in cellular neuroscience · 2020Review
- Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.Genome medicine · 2019Article
- Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.Frontiers in cellular neuroscience · 2019Article
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Authors and funding
16 authors at 8 institutions in 5 countries.
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No grant is acknowledged in the PubMed record.
Abstract
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. However, the size of the FOXG1 regulatory landscape is uncertain, because the associated topologically associating domain (TAD) in fibroblasts is split into two domains in embryonic stem cells (hESC). Indeed, it has been suggested that the pathogenetic mechanism of deletions that remove the stem-cell-specific TAD boundary may be enhancer adoption due to ectopic activity of enhancer(s) located in the distal hESC-TAD. Herein we map three de novo translocation breakpoints to the proximal regulatory domain of FOXG1. The classical FOXG1 syndrome in these and in other translocation patients, and in a patient with an intergenic deletion that removes the hESC-specific TAD boundary, do not support the hypothesised enhancer adoption as a main contributor to the FOXG1 syndrome. Also, virtual 4 C and HiC-interaction data suggest that the hESC-specific TAD boundary may not be critical for FOXG1 regulation in a majority of human cells and tissues, including brain tissues and a neuronal progenitor cell line. Our data support the importance of a critical regulatory region (SRO) proximal to the hESC-specific TAD boundary. We further narrow this critical region by a deletion distal to the hESC-specific boundary, associated with a milder clinical phenotype. The distance from FOXG1 to the SRO ( > 500 kb) highlight a limitation of ENCODE DNase hypersensitivity data for functional prediction of LRPE. Moreover, the SRO has little overlap with a cluster of frequently associating regions (FIREs) located in the proximal hESC-TAD.
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