ArticleEuropean journal of human genetics : EJHG2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
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Who cites it
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.
- The genetics of rod-cone dystrophy in Arab countries: a systematic review.European journal of human genetics : EJHG · 2021Pooled it
- Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.Molecular genetics & genomic medicine · 2026Article
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- Genetic diversity of Usher syndrome in Moroccan patients.Human genetics · 2026Article
- Gene Therapy for Inherited Retinal Disease: Current Strategies, Personalized Medicine, and Future Implications-A Comprehensive Review.Journal of personalized medicine · 2025Review
- USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.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
- Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.European journal of human genetics : EJHG · 2025Article
- GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.Scientific reports · 2025Article
- Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.Case reports in genetics · 2025Article
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- Article
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Investigating Splice Defects inCells · 2024Article
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- Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Birth defects research · 2024Article
- High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.Orphanet journal of rare diseases · 2024Article
- A Case of Autosomal Recessive Retinitis Pigmentosa with Vitelliform-Like Appearance at the Macula Associated with NovelBeyoglu eye journal · 2024Article
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.Scientific reports · 2023Article
- Article
25 more citing papers are in PubMed but not listed here.
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12 authors at 5 institutions in 4 countries.
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Abstract
Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration ('retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one 'retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype-phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting.
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