ArticleOrphanet journal of rare diseases2011
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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41 citing papers in PubMed.
- Usher Syndrome Type 2D Associated With a Novel Homozygous Whrn c.74dup Variant: A Case Report.Cureus · 2026Article
- Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida.Human genomics · 2025Article
- Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.Molecular therapy. Nucleic acids · 2024Article
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.Ophthalmology. Retina · 2024Article
- Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.Molecular genetics & genomic medicine · 2023Article
- Article
- Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants inInternational journal of molecular sciences · 2022Article
- Phenotypic characterization of retinitis pigmentosa associated with deafnessBiomedica : revista del Instituto Nacional de Salud · 2022Article
- Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Human genetics · 2022Review
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.BMC medical genomics · 2021Article
- USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.BMC ophthalmology · 2021Article
- Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.Clinical genetics · 2021Article
- Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.Frontiers in genetics · 2021Article
- Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Molecular medicine reports · 2020Article
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
- Genome Editing in Patient iPSCs Corrects the Most PrevalentMolecular therapy. Methods & clinical development · 2020Article
- Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.BMC ophthalmology · 2020Article
- Structural modeling, mutation analysis, andComputational and structural biotechnology journal · 2020Article
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14 authors.
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Abstract
backgroundUsher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases.
methodsTo identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing.
resultsAs a result, a total of 144 DNA sequence variants were identified. Based upon previous studies, allele frequencies, segregation analysis, bioinformatics' predictions and in vitro experiments, 37 variants (23 of them novel) were classified as pathogenic mutations.
conclusionsThis report provide a wide spectrum of USH2A mutations and clinical features, including atypical Usher syndrome phenotypes resembling Usher syndrome type I. Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in USH2A are responsible for 76.1% of USH2 disease in patients of Spanish origin.
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