ArticleMolecular vision2014
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
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 15 papers.
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Who cites it
15 citing papers in PubMed.
- Clinical and Genetic Features of Autosomal Recessive Bestrophinopathy: A Case Series from a Vietnamese Cohort.Biomedicines · 2025Article
- Article
- Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.Current medical science · 2024Article
- Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.Investigative ophthalmology & visual science · 2024Article
- Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy.American journal of ophthalmology case reports · 2022Article
- Structure and Function of the Bestrophin family of calcium-activated chloride channels.Channels (Austin, Tex.) · 2021Review
- Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.Experimental and therapeutic medicine · 2021Article
- A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2021Article
- Natural course of the vitelliform stage in best vitelliform macular dystrophy: a five-year follow-up study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in theInternational journal of molecular sciences · 2020Article
- Article
- Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.BioMed research international · 2018Article
- Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.Molecular medicine reports · 2017Article
- Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Documenta ophthalmologica. Advances in ophthalmology · 2016Article
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Authors and funding
4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe the clinical features of these patients.
methodsThirteen patients from 12 unrelated Chinese families affected by bestrophinopathy were recruited and clinically evaluated with best-corrected visual acuity examination, slit-lamp biomicroscopy, fundus examination and photography, optical coherence tomography, fundus autofluorescence, electro-oculography, and electroretinography. Blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the BEST1 gene. One hundred control chromosomes were also screened to exclude nonpathogenic polymorphisms.
resultsSeven patients showed clinical pictures of Best vitelliform macular dystrophy (BVMD) and harbored heterozygous mutations compatible with autosomal dominant inheritance. Two novel mutations (p.T4I and p.A291V) and three reported mutations (p.R218C, p.Q293H, and p.D301G) were identified. Six patients carried BEST1 mutations on both alleles compatible with autosomal recessive inheritance. Compound heterozygous mutations were detected in four patients who presented a BVMD phenotype, while homozygous mutations were detected in two patients with autosomal recessive bestrophinopathy. Mutation analysis revealed eight mutations. Four (p.Y33H, p.R130L, p.M163R, and c.519delA) were novel, and four (p.R13H, p.A195V, p.R255W, and p.W287*) had previously been reported.
conclusionsPatients with biallelic BEST1 mutations were common among Chinese patients with bestrophinopathy, and the phenotypes varied. The features and combinations of different BEST1 mutations as well as epistatic effects may influence phenotype expression. Our results expand the BEST1 mutation spectrum.
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