ArticleNature genetics1998
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Article in Nature genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
151 citing papers in PubMed, 1 synthesis or guideline pooled it, 469 citations in OpenAlex.
- Chromosome abnormalities and the genetics of congenital corneal opacification.Molecular vision · 2011Pooled it
- A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.The British journal of ophthalmology · 2003Trial
- Exome-wide screening discovers novel pathogenic variants in Vietnamese primary congenital glaucoma patients.Genes & genomics · 2026Article
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- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.Japanese journal of ophthalmology · 2024Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.Cells & development · 2024Article
- Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.Scientific reports · 2024Article
- Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.BMC genomics · 2024Article
- Glaucoma Animal Models beyond Chronic IOP Increase.International journal of molecular sciences · 2024Review
- LncRNA RMRP promotes chondrocyte injury by regulating the FOXC1/RBP4 axis.Central-European journal of immunology · 2024Article
- Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.AJNR. American journal of neuroradiology · 2023Article
- Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.Nature genetics · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.Indian journal of ophthalmology · 2023Article
- Pediatric Glaucoma-From Screening, Early Detection to Management.Children (Basel, Switzerland) · 2023Review
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- Article
91 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a cluster of tightly linked genes. We have identified two primary congenital glaucoma (PCG) patients with chromosomal anomalies involving 6p25. In order to identify a gene involved in PCG, the chromosomal breakpoints in a patient with a balanced translocation between 6p25 and 13q22 were cloned. Cloning of the 6p25 breakpoint led to the identification of two candidate genes based on proximity to the breakpoint. One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy. Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes.
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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.