ArticleMolecular genetics & genomic medicine2014
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.Investigative ophthalmology & visual science · 2014Trial
- Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.Investigative ophthalmology & visual science · 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
- Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.Biomedicines · 2024Article
- Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants inInternational journal of molecular sciences · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Structural modeling, mutation analysis, andComputational and structural biotechnology journal · 2020Article
- Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.International journal of molecular sciences · 2019Article
- Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.International journal of molecular sciences · 2019Article
- Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andMolecular genetics & genomic medicine · 2017Article
- An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.European journal of human genetics : EJHG · 2016Article
- Molecular findings from 537 individuals with inherited retinal disease.Journal of medical genetics · 2016Article
- VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Meta gene · 2016Article
- Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.BMC cancer · 2015Article
- Usher syndrome: clinical features, molecular genetics and advancing therapeutics.Therapeutic advances in ophthalmologyReview
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Usher syndrome is an autosomal recessive disorder characterized both by deafness and blindness. For the three clinical subtypes of Usher syndrome causal mutations in altogether 12 genes and a modifier gene have been identified. Due to the genetic heterogeneity of Usher syndrome, the molecular analysis is predestined for a comprehensive and parallelized analysis of all known genes by next-generation sequencing (NGS) approaches. We describe here the targeted enrichment and deep sequencing for exons of Usher genes and compare the costs and workload of this approach compared to Sanger sequencing. We also present a bioinformatics analysis pipeline that allows us to detect single-nucleotide variants, short insertions and deletions, as well as copy number variations of one or more exons on the same sequence data. Additionally, we present a flexible in silico gene panel for the analysis of sequence variants, in which newly identified genes can easily be included. We applied this approach to a cohort of 44 Usher patients and detected biallelic pathogenic mutations in 35 individuals and monoallelic mutations in eight individuals of our cohort. Thirty-nine of the sequence variants, including two heterozygous deletions comprising several exons of USH2A, have not been reported so far. Our NGS-based approach allowed us to assess single-nucleotide variants, small indels, and whole exon deletions in a single test. The described diagnostic approach is fast and cost-effective with a high molecular diagnostic yield.
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