ArticleHuman genetics2005
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 113 citations in OpenAlex.
- Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment.Nature communications · 2026Article
- A developmentally regulated long-range enhancer-promoter contact mediates human neural development.bioRxiv : the preprint server for biology · 2026Article
- Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.Molecular psychiatry · 2025Article
- Dual role of FOXG1 in regulating gliogenesis in the developing neocortex via the FGF signalling pathway.eLife · 2025Article
- PLP1-Targeting Antisense Oligonucleotides Improve FOXG1 Syndrome Mice.International journal of molecular sciences · 2024Article
- Prosopagnosia: face blindness and its association with neurological disorders.Brain communications · 2024Article
- Rett and Rett-related disorders: Common mechanisms for shared symptoms?Experimental biology and medicine (Maywood, N.J.) · 2023Review
- Conditional Deletion ofInternational journal of molecular sciences · 2023Article
- Multidimensional Functional Profiling of Human NeuropathogenicInternational journal of molecular sciences · 2022Article
- Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.International journal of molecular sciences · 2022Review
- Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.Frontiers in neurology · 2022Review
- FOXR1 regulates stress response pathways and is necessary for proper brain development.PLoS genetics · 2021Article
- FOXG1 Directly Suppresses Wnt5a During the Development of the Hippocampus.Neuroscience bulletin · 2021Article
- Innovations in 3-Dimensional Tissue Models of Human Brain Physiology and Diseases.Advanced functional materials · 2020Article
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.Molecular cytogenetics · 2020Article
- Stem Cells for Improving the Treatment of Neurodevelopmental Disorders.Stem cells and development · 2020Review
- Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders.Frontiers in cellular neuroscience · 2020Review
- Review
- Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects.Molecular brain · 2019Article
- Precisely controlling endogenous protein dosage in hPSCs and derivatives to model FOXG1 syndrome.Nature communications · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14q12. By combined fluorescence in situ hybridisation and Southern hybridisation, the distal inversion breakpoint on chromosome 14 was mapped to a region harbouring genes and ESTs derived predominantly from brain tissue. RT-PCR studies indicated that these transcripts comprise the 3' ends of novel splice variants of the winged helix transcription factor FOXG1B (also referred to in previous studies as FOXG1A and FOXG1C, as well as Brain Factor 1), the mouse orthologue of which is essential for normal development of the telencephalon. Analysis of these novel FOXG1B transcripts indicated that they are all disrupted by the breakpoint in the patient. Moreover, we have identified novel orthologous Foxg1 transcripts in the mouse and other vertebrates, which validates the functional importance of these variants and provides a direct genetic link between the patient phenotype and that of the heterozygous Foxg1 knockout mice. These results, together with previously published studies on patients with similar disorders and proximal 14q deletions, strongly suggest that several disorders associated with malformations of the human brain may be directly caused by mutations or alterations in the FOXG1B gene.
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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.