ArticleHuman mutation2014
HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Genetic analysis and reproductive interventions in families affected by congenital cataracts: a study of 107 cases.Journal of applied genetics · 2026Article
- Multiomics Analysis Reveals Novel Genetic Determinants for Lens Differentiation, Structure, and Transparency.Biomolecules · 2023Review
- Review
- Structural analysis of missense mutations occurring in the DNA-binding domain of HSF4 associated with congenital cataracts.Journal of structural biology: X · 2020Article
- Transcriptional profiling of single fiber cells in a transgenic paradigm of an inherited childhood cataract reveals absence of molecular heterogeneity.The Journal of biological chemistry · 2019Article
- Proteome-transcriptome analysis and proteome remodeling in mouse lens epithelium and fibers.Experimental eye research · 2019Article
- Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Human mutation · 2018Review
- HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators.Cell death & disease · 2017Article
- Signaling and Gene Regulatory Networks in Mammalian Lens Development.Trends in genetics : TIG · 2017Review
- Chromatin features, RNA polymerase II and the comparative expression of lens genes encoding crystallins, transcription factors, and autophagy mediators.Molecular vision · 2015Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
The p.Arg116His mutation in the heat shock transcription factor-4 (HSF4) has been associated with age-related cataracts, but it is also seen in 2% of the normal population, indicating either reduced penetrance or that the normal subjects were not old enough to express the phenotype. Based on the proximity of p.Arg116His to two known mutations in the DNA-binding domain of HSF4, namely, p.Leu114Pro and p.Arg119Cys, which segregate with childhood lamellar cataract, we tested the possibility that this phenotype may have been missed by the ophthalmologist and/or that it did not spread to the visual axis so as to affect vision significantly. Here, we demonstrate via BAC (bacterial artificial chromosome) transgenesis that p.Arg116His recreates the childhood lamellar cataract in mice suggesting that incomplete penetrance associated with early cataracts may not be an absence but a limitation of the detection of the phenotype.
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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.