ArticleInvestigative ophthalmology & visual science2016
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Article in Investigative ophthalmology & visual science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The trial behind it
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Trial
- Article
- Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.Molecular genetics & genomic medicine · 2024Article
- Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.JAMA ophthalmology · 2024Article
- CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.Ophthalmology. Retina · 2023Article
- Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review.Journal of personalized medicine · 2023Review
- Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.Frontiers in genetics · 2022Article
- Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.Frontiers in genetics · 2022Article
- Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.International journal of molecular sciences · 2021Article
- A NovelFrontiers in cell and developmental biology · 2021Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Review
- Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.PloS one · 2018Article
- Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.Ophthalmology · 2017Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Purpose: A majority of genes associated with inherited retinal diseases (IRDs) have been identified in patients of European origin. Indigenous African populations exhibit rich genomic diversity, and evaluation of reported genetic mutations has yielded low returns so far. Our goal was to perform whole-exome sequencing (WES) to examine variants in known IRD genes in underrepresented African cohorts. Methods: Whole-exome sequencing was performed on 56 samples from 16 families with diverse IRD phenotypes that had remained undiagnosed after screening for known mutations using genotyping-based microarrays (Asper Ophthalmics). Variants in reported IRD genes were identified using WES and validated by Sanger sequencing. Custom TaqMan assays were used to screen for identified mutations in 193 unrelated indigenous Africans with IRDs. Results: A total of 3494 variants were identified in 217 known IRD genes, leading to the identification of seven different mutations (including six novel) in six genes (RHO, PRPF3, PRPF31, ABCA4, CERKL, and PDE6B) in six distinct families. TaqMan screening in additional probands revealed identical homozygous CERKL and PDE6B variants in four more patients. Conclusions: This is the first report of WES of patients with IRDs in indigenous African populations. Our study identified genetic defects in almost 40% of the families analyzed, significantly enhancing the molecular diagnosis of IRD in South Africa. Thus, WES of understudied cohorts seems to present an effective strategy for determining novel mutations in heterogeneous retinal diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.