ArticleFrontiers in genetics2019
Genetic Screening of the Usher Syndrome in Cuba.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.Molecular vision · 2025Article
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- Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review.Balkan medical journal · 2024Review
- Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.Journal of clinical laboratory analysis · 2022Article
- Homology modeling and global computational mutagenesis of human myosin VIIa.Journal of analytical & pharmaceutical research · 2021Article
- Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in theFrontiers in genetics · 2020Article
- Review of Genotype-Phenotype Correlations in Usher Syndrome.Ear and hearingReview
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUsher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in Europe and United States, there is a lack of studies in other regions like Africa or Central and South America.
methodsWe designed a NGS panel that included the 10 USH causative genes (
resultsNGS sequencing was performed in 11 USH patients from Cuba. All the cases were solved. We found the responsible mutations in the
conclusionAlthough the sample size is very small, it is tempting to speculate that the gene frequencies in Cuba are distinct from other populations mainly due to an "island effect" and genetic drift. The two recurrent mutations appear to be of Spanish origin. Further studies with a larger cohort are needed to elucidate the real genetic landscape of Usher syndrome in the Cuban population.
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