ArticleClinical ophthalmology (Auckland, N.Z.)2021
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.
Article in Clinical ophthalmology (Auckland, N.Z.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.Frontiers in genetics · 2023Pooled it
- Article
- Clinical variability ofBMJ case reports · 2024Article
- Article
- The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers.International journal of medical sciences · 2024Article
- Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.Eye (London, England) · 2023Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relative geographic isolation, Puerto Rico has a greater prevalence of Bardet-Biedl syndrome than do other regions. We sought to characterize the most frequent genotypic variations in a local cohort of Bardet-Biedl syndrome patients and report any genotypic-phenotypic trends.
methodsTwenty-seven patients from an ophthalmology clinic in Puerto Rico with genetically confirmed Bardet-Biedl syndrome took a questionnaire inquiring about their most common symptoms. Ophthalmological information was obtained from patient records. The frequencies of the genotypic variations and symptoms were calculated.
resultsIn the study population,
conclusionOur study was the first detailed genotype-phenotype analysis of the Bardet-Biedl syndrome in Puerto Rico. Genetic mutations in
Indexed as
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Registered trials
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