ArticleMolecular genetics & genomic medicine2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and
Article in Molecular genetics & genomic medicine, 2017. 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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Who cites it
41 citing papers in PubMed, 64 citations in OpenAlex.
- The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher GenesInternational journal of molecular sciences · 2021Trial
- Trial
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- A Comparative Evaluation of the Genetic Variant Spectrum in theInternational journal of molecular sciences · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Identification of a novel heterozygous variant in theTranslational pediatrics · 2024Article
- PEX26 Functions as a Metastasis Suppressor in Colorectal Cancer.Digestive diseases and sciences · 2024Article
- Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.American journal of ophthalmology · 2023Article
- Successful large gene augmentation of USH2A with non-viral episomal vectors.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.Translational vision science & technology · 2023Article
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- Article
- Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.International journal of molecular sciences · 2022Article
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Phenotypic characterization of retinitis pigmentosa associated with deafnessBiomedica : revista del Instituto Nacional de Salud · 2022Article
- Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.Human genetics · 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
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- AAV-mediatedMolecular therapy. Methods & clinical development · 2021Article
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Authors and funding
28 authors at 16 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCombined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).
methodsSanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome.
resultsA molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one tool for detecting point mutations and CNVs. CNVs accounted for 10% of identified
conclusionTargeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.
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