ArticleEuropean journal of human genetics : EJHG2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- Nonsense Mutation inInternational journal of molecular sciences · 2026Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.Advances in experimental medicine and biology · 2025Article
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Communications biology · 2023Article
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Article
- Article
- Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Human genetics · 2022Review
- Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.Frontiers in genetics · 2022Article
- The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.International journal of molecular sciences · 2021Review
- Article
- Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- From Antisense RNA to RNA Modification: Therapeutic Potential of RNA-Based Technologies.Biomedicines · 2021Review
- USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.BMC ophthalmology · 2021Article
- Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.International journal of molecular sciences · 2021Review
- Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.Scientific reports · 2021Article
- Prevalence and genetic-phenotypic characteristics of patients withThe British journal of ophthalmology · 2021Article
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11 authors.
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Abstract
Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of an interactome that has an essential role in the development and function of inner ear hair cells and photoreceptors. The gene contains 72 exons spanning over a region of 800 kb. Although numerous mutations have been described, the c.2299delG mutation is the most prevalent in several populations. Its ancestral origin was previously suggested after the identification of a common core haplotype restricted to 250 kb in the 5' region that encodes the short usherin isoform. By extending the haplotype analysis over the 800 kb region of the USH2A gene with a total of 14 intragenic single nucleotide polymorphisms, we have been able to define 10 different c.2299delG haplotypes, showing high variability but preserving the previously described core haplotype. An exhaustive c.2299delG/control haplotype study suggests that the major source of variability in the USH2A gene is recombination. Furthermore, we have evidenced twice the amount of recombination hotspots located in the 500 kb region that covers the 3' end of the gene, explaining the higher variability observed in this region when compared with the 250 kb of the 5' region. Our data confirm the common ancestral origin of the c.2299delG mutation.
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