ArticleNeurogenetics2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Article in Neurogenetics, 2011. 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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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- FGF family in health and disease.Molecular biomedicine · 2026Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- G9a inactivation in progenitor cells with Isl1-Cre with reduced recombinase activity models aspects of Dandy-Walker complex.Biology open · 2023Article
- Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.Clinical case reports · 2021Article
- Deconstructing cerebellar development cell by cell.PLoS genetics · 2020Review
- Article
- Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause.Neurogenetics · 2018Article
- Article
- Cellular commitment in the developing cerebellum.Frontiers in cellular neuroscience · 2014Review
- Implication of fibroblast growth factors in epileptogenesis-associated circuit rearrangements.Frontiers in cellular neuroscience · 2013Article
- Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.Orphanet journal of rare diseases · 2013Article
- Cellular and molecular basis of cerebellar development.Frontiers in neuroanatomy · 2013Article
- Diffusion tensor imaging and fiber tractography in brain malformations.Pediatric radiology · 2013Review
- Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.Molecular cytogenetics · 2012Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
Fibroblast growth factors (FGFs) are important signaling molecules which act during early vertebrate central nervous system development. FGF17, together with FGF8, is a key factor in the patterning of the mid-hindbrain region with a complex picture of spatiotemporal gene expression during the various stages of cerebellar development. Disruption or reduced expression of fgf17 in mice has been associated with cerebellar vermis abnormalities. We have identified a de novo 2.3-Mb deletion of chromosome 8p21.2-p21.3 in a girl with severe growth retardation, seizures, and classical Dandy-Walker malformation. Analysis of gene expression in blood lymphocytes and skin fibroblasts revealed markedly reduced levels of FGF17, which is located 1 Mb from the proximal deletion breakpoint. This is the first report of a human cerebellar malformation associated with transcriptional downregulation of the FGF17 gene.
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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.