ReviewHuman genetics2019
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Review in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
33 citing papers in PubMed, 53 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Genetic analysis and reproductive interventions in families affected by congenital cataracts: a study of 107 cases.Journal of applied genetics · 2026Article
- A Novel CRYBB2 Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract.Investigative ophthalmology & visual science · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.Investigative ophthalmology & visual science · 2025Article
- Periaxin gene variants are linked to age-related cataracts in Cx46 deficient lenses.Communications biology · 2025Article
- Prenatal Ultrasound Diagnosis and Prognosis Analysis of Fetal Congenital Cataract.International journal of women's health · 2025Article
- Zebrafish as a model for crystallin-associated congenital cataracts in humans.Frontiers in cell and developmental biology · 2025Review
- Modeling monocular form deprivation in rabbits using a simulated-cataract intraocular lens.International journal of ophthalmology · 2024Article
- D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.Cell biochemistry and biophysics · 2023Article
- Mutational spectrum in a Chinese cohort with congenital cataracts.Molecular genetics & genomic medicine · 2023Article
- Identification and Functional Characterization of Mutation inLife (Basel, Switzerland) · 2023Article
- CELF1 Selectively Regulates Alternative Splicing of DNA Repair Genes Associated With Cataract in Human Lens Cell Line.Biochemical genetics · 2023Article
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- Evolution and trends of childhood cataract research in the past 10 years: A scientometric analysis.Heliyon · 2023Review
- [Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].Die Ophthalmologie · 2023Article
- Biomarkers of Pediatric Cataracts: A Proteomics Analysis of Aqueous Fluid.International journal of molecular sciences · 2023Article
- Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.Genes & genomics · 2023Article
- A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.Human genetics · 2023Article
- Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis.International journal of ophthalmology · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Pediatric cataract represents an important cause of pediatric visual impairment. While both genetic and environmental causes for pediatric cataract are known, a large proportion remains idiopathic. The purpose of this review is to discuss genes involved in isolated pediatric cataract, with a focus on variable inheritance patterns within genes. Mutations in over 52 genes are known to cause isolated pediatric cataract, with a major contribution from genes encoding for crystallins, transcription factors, membrane proteins, and cytoskeletal proteins. Interestingly, both dominant and recessive inheritance patterns have been reported for mutations in 13 different cataract genes. For some genes, dominant and recessive alleles represent distinct types of mutations, but for many, especially missense variants, there are no clear patterns to distinguish between dominant and recessive alleles. Further research into the functional effects of these mutations, as well as additional data on the frequency of the identified variants, is needed to clarify variant pathogenicity. Exome sequencing continues to be successful in identifying novel genes associated with congenital cataract but is hindered by the extreme genetic heterogeneity of this condition. The large number of idiopathic cases suggests that more genes and potentially novel mechanisms of gene disruption remain to be identified.
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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 Socratic graph.