ArticleMolecular genetics and metabolism2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Article in Molecular genetics and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- ZNF469 drives TGF-β1/SMAD3-mediated extracellular matrix regulation in pulmonary fibrosis.Biomolecules & biomedicine · 2026Article
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- ZNF469 promotes extracellular matrix production in normal and keloid dermal fibroblasts.Molecular medicine reports · 2025Article
- On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469.FEBS open bio · 2025Article
- Five novelZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- Article
- Review
- Neurobiological and neuropsychological disturbance in EDS.Frontiers in neurology · 2025Review
- A Possible Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in the Coding Exons of theInternational journal of molecular sciences · 2024Article
- Fibrosis and Hepatocarcinogenesis: Role of Gene-Environment Interactions in Liver Disease Progression.International journal of molecular sciences · 2024Review
- Brittle cornea syndrome: A novel mutation.Heliyon · 2024Article
- An Eye into the Aorta: The Role of Extracellular Matrix Regulatory GenesInternational journal of molecular sciences · 2024Review
- The transcription factor ZNF469 regulates collagen production in liver fibrosis.bioRxiv : the preprint server for biology · 2024Article
- Variants in theHeliyon · 2024Article
- Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformities.The Canadian veterinary journal = La revue veterinaire canadienne · 2024Article
- Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome.Investigative ophthalmology & visual science · 2023Article
- A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.International ophthalmology · 2023Article
- Genetic prescreening of a candidate for laser refractive surgery identifies risk for inadequate tissue response: a case report.Journal of medical case reports · 2022Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 5 countries.
Funding
Abstract
Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the small joints are additional features of BCS. Transcriptional regulation of extracellular matrix components, particularly of fibrillar collagens, by PRDM5 and ZNF469 suggests that they might be part of the same pathway, the disruption of which is likely to cause the features of BCS. In the present study, we have performed molecular analysis of a cohort of 23 BCS affected patients on both ZNF469 and PRDM5, including those who were clinically reported previously [1]; the clinical description of three additional patients is reported in detail. We identified either homozygous or compound heterozygous mutations in ZNF469 in 18 patients while, 4 were found to be homozygous for PRDM5 mutations. In one single patient a mutation in neither ZNF469 nor PRDM5 was identified. Furthermore, we report the 12 novel ZNF469 variants identified in our patient cohort, and show evidence that ZNF469 is a single exon rather than a two exon 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.