ArticleMolecular vision2012
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Outcomes of cochlear implantation in Usher syndrome: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Pooled it
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.Audiology research · 2024Review
- Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.Human genetics · 2022Review
- Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.Scientific reports · 2018Article
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- An overview of the Prince Salman Center for Disability Research scientific outcomes.Saudi medical journal · 2014Article
- Review of Genotype-Phenotype Correlations in Usher Syndrome.Ear and hearingReview
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeUsher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms. To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to be ideal candidates to benefit from cochlear implantation.
methodsGenome-wide linkage analysis using Affymetrix GeneChip Human Mapping 10K arrays were performed in three cochlear implanted Saudi siblings born from a consanguineous marriage, clinically diagnosed with USH1 by comprehensive clinical, audiological, and ophthalmological examinations. From the linkage results, the USH1G gene was screened for mutations by direct sequencing of the coding exons.
resultsWe report the identification of a novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype and was not present in 300 ethnically matched normal controls. We also report on the novel retinal findings and the outcome of cochlear implantation in the affected individuals.
conclusionsIn addition to reporting a novel truncating mutation, this report expands the retinal phenotype in USH1G and presents the first report of successful cochlear implants in this disease.
Indexed as
Identifiers
22876113PMC3413430W1496940232What OpenQuestion holds
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.