ArticleJournal of medical genetics2010
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 1 of them a synthesis that pooled it.
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Who cites it
98 citing papers in PubMed, 1 synthesis or guideline pooled it, 168 citations in OpenAlex.
- The genetics of rod-cone dystrophy in Arab countries: a systematic review.European journal of human genetics : EJHG · 2021Pooled it
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- Trial
- Anatomy- versus Sensitivity-Based Loci Preselection in Detecting USH2A-Retinopathy Microperimetric Progression.Ophthalmology science · 2026Article
- TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.Human mutation · 2026Review
- Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.Investigative ophthalmology & visual science · 2025Article
- Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.Investigative ophthalmology & visual science · 2025Article
- Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study.Investigative ophthalmology & visual science · 2025Article
- Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association Study.American journal of ophthalmology · 2025Article
- Functional Vision Assessment Over 4 Years in USH2A Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire.Investigative ophthalmology & visual science · 2025Article
- Identification of NovelHuman mutation · 2025Article
- Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.Advances in experimental medicine and biology · 2025Review
- Article
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.Translational vision science & technology · 2024Article
- Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.International journal of molecular sciences · 2024Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Functional Vision in Patients With Biallelic USH2A Variants.American journal of ophthalmology · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
38 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundUsher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie, non-syndromic RP). The USH2A gene was initially identified as a transcript comprised of 21 exons but subsequently a longer isoform containing 72 exons was identified.
methodsThe 51 exons unique to the long isoform of USH2A were screened for mutations among a core set of 108 patients diagnosed with USH2 and 80 patients with non-syndromic RP who were all included in a previously reported screen of the short isoform of USH2A. For several exons, additional patients were screened.
resultsIn total, 35 deleterious mutations were identified including 17 nonsense mutations, 9 frameshift mutations, 5 splice-site mutations, and 4 small in-frame deletions or insertions. Twenty-seven mutations were novel. In addition, 65 rare missense changes were identified. A method of classifying the deleterious effect of the missense changes was developed using the summed results of four different mutation assessment algorithms, SIFT, pMUT, PolyPhen, and AGVGD. This system classified 8 of the 65 changes as 'likely deleterious' and 9 as 'possibly deleterious'.
conclusionAt least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.
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