ArticleScientific reports2018
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Gene Therapy for Inherited Retinal Disease: Current Strategies, Personalized Medicine, and Future Implications-A Comprehensive Review.Journal of personalized medicine · 2025Review
- Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.Investigative ophthalmology & visual science · 2025Article
- Clinical and Genetic Features of Autosomal Recessive Bestrophinopathy: A Case Series from a Vietnamese Cohort.Biomedicines · 2025Article
- Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.Investigative ophthalmology & visual science · 2023Article
- Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.International journal of molecular sciences · 2022Article
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in theInternational journal of molecular sciences · 2020Article
- Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.Taiwan journal of ophthalmologyArticle
- NovelTaiwan journal of ophthalmologyArticle
- Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies.Therapeutic advances in ophthalmologyReview
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected and twelve unaffected individuals. We identified five mutations in BEST1, including p.Tyr131Cys in family A, p.Arg150Pro in family B, p.Arg47His and p.Val216Ile in family C and p.Thr91Ile in family D. Among these, p.Tyr131Cys, p.Arg150Pro and p.Val216Ile have not been previously reported. Further, the inheritance pattern of BEST1 mutations in the families confirmed the diagnosis of ARB in probands in families A, B and C, while the inheritance of heterozygous BEST1 mutation in family D (p.Thr91Ile) was suggestive of BVMD. Interestingly, the ARB families A and B carry homozygous mutations while family C was a compound heterozygote with a mutation in an alternate BEST1 transcript isoform, highlighting a role for alternate BEST1 transcripts in bestrophinopathy. In the BVMD family D, the heterozygous BEST1 mutation found in the proband was also found in the asymptomatic parent, suggesting an incomplete penetrance and/or the presence of additional genetic modifiers. Our report expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.
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