ArticleMolecular vision2014
Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Natural history of progressive vision loss in Bietti crystalline dystrophy: a model-based meta-analysis.BMJ open ophthalmology · 2025Pooled 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
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
- Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.Molecular vision · 2025Review
- 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
- Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy.Indian journal of ophthalmology · 2022Article
- Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway.Investigative ophthalmology & visual science · 2022Article
- Identification of a novel compound heterozygousBiomedical reports · 2022Article
- A novel mutation ofInternational journal of ophthalmology · 2022Article
- [Generation and characterization ofBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2021Article
- 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
- Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy.Gene therapy · 2020Article
- Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications.International journal of molecular sciences · 2019Review
- Article
- Novel mutations inMolecular vision · 2019Article
- Current perspectives in Bietti crystalline dystrophy.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Comprehensive screening ofMolecular vision · 2018Article
- Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.European journal of human genetics : EJHG · 2017Article
- Article
- Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.Ophthalmic genetics · 2016Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti's crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD.
methodsAll study participants underwent a complete ophthalmological examination. Mutational screening of CYP4V2 coding regions and flanking intron sequences was examined via directional Sanger sequencing, with allele separation confirmed by screening other family members. Subsequent in silico analysis of the mutational consequence on protein function was undertaken, with the impact of the novel mutation on pre-mRNA splicing examined via RT-PCR.
resultsFifteen disease-causing variants were identified in 92 probands with BCD, including four novel mutations and eleven previously reported mutations. The most prevalent mutation was c.802_810del17insGC, which was detected in 69 unrelated families, with an allele frequency of 52.7% (97/184). Homozygosity was revealed in 35 unrelated families, and compound heterozygosity was observed in 43 subjects. Four patients harbored four novel variants, with these mutations cosegregated within all affected individuals and were not found in unaffected family members and 100 unrelated controls. Transcriptional analysis of a novel splice mutation revealed altered RNA splicing. In silico analysis predicted that the missense variant, p.Tyr343Asp, disrupted the CYP4V2 surface electrostatic potential distribution and spatial conformation. Among the patients with four novel mutations, genotype did not always correlate with age at onset, disease course, or electroretinogram (ERG) changes, with phenotypic variations even noted within the same genotype.
conclusionsThe c.802_810del17insCG mutation was the most common mutation in the 92 Chinese probands with BCD examined. Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with BCD, with no clear link established between disease phenotype and genotype.
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