ArticleEuropean journal of human genetics : EJHG2017
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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The trial behind it
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
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Natural history of progressive vision loss in Bietti crystalline dystrophy: a model-based meta-analysis.BMJ open ophthalmology · 2025Pooled it
- Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population.Clinical and experimental medicine · 2019Pooled it
- Bietti crystalline dystrophy in Türkiye: A genetic crossroads between Asia and Europe.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Fundus Autofluorescence as a Sensitive Biomarker of Disease Progression in Bietti Crystalline Dystrophy.Ophthalmology science · 2026Article
- Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.American journal of ophthalmology case reports · 2025Article
- Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.Molecular vision · 2025Review
- Targeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti's crystalline dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.JCI insight · 2024Article
- Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.Translational vision science & technology · 2023Article
- Identification of a novel compound heterozygousBiomedical reports · 2022Article
- CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.Frontiers in genetics · 2022Article
- A novel mutation ofInternational journal of ophthalmology · 2022Article
- Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography.BMC ophthalmology · 2021Article
- Article
- PSCs Reveal PUFA-Provoked Mitochondrial Stress as a Central Node Potentiating RPE Degeneration in Bietti's Crystalline Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Multimodal imaging features and genetic findings in Bietti crystalline dystrophy.BMC ophthalmology · 2020Article
- Article
- Current perspectives in Bietti crystalline dystrophy.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Novel mutations inMolecular vision · 2019Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples from 58 unrelated patients with clinical diagnoses of BCD. Exons and flanking intronic regions of the CYP4V2 gene were dideoxy DNA sequenced. Nonpathogenic polymorphisms were excluded and known mutations were identified by sequencing 192 unaffected individuals from similar ethnic backgrounds and examination of online databases. The age of the c.802-8_810del17insGC mutation was estimated using three independent approaches. A total of 28 CYP4V2 mutations, 9 of which were novel, were detected in the 58 patients with BCD. These included 19 missense, 4 nonsense, 2 deletion, 2 splice site, and 1 insertion-deletion mutations. Two missense variants of uncertain significance were also detected. The age of the c.802-8_810del17insGC mutation was estimated to be 1040-8200 generations in the Chinese and 300-1100 generations in the Japanese populations. These results expand the mutation spectrum of CYP4V2, and provide insight into the origin of the c.802-8_810del17insGC mutation in the Chinese population and its transmission to the Japanese population.
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