ArticleMolecular vision2011
Molecular epidemiology of Usher syndrome in Italy.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Genetic diversity of Usher syndrome in Moroccan patients.Human genetics · 2026Article
- A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.BMC ophthalmology · 2024Article
- Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Usher Syndrome.Audiology research · 2022Review
- Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Structural modeling, mutation analysis, andComputational and structural biotechnology journal · 2020Article
- Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.Hearing research · 2019Review
- Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.Scientific reports · 2017Article
- Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.International journal of molecular medicine · 2015Article
- A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.European journal of human genetics : EJHG · 2015Article
- The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.Molecular vision · 2015Article
- Targeted exon sequencing in Usher syndrome type I.Investigative ophthalmology & visual science · 2014Article
- Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Orphanet journal of rare diseases · 2014Article
- Syndromes of hearing loss associated with visual loss.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2014Review
- Experience of targeted Usher exome sequencing as a clinical test.Molecular genetics & genomic medicine · 2014Article
- MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.Molecular vision · 2014Article
- Digenic inheritance in medical genetics.Journal of medical genetics · 2013Review
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Journal of medical genetics · 2012Article
- Genetic analysis for two italian siblings with usher syndrome and schizophrenia.Case reports in ophthalmological medicine · 2012Article
- Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.PloS one · 2012Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeUsher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is divided into three clinical subclasses (type 1, type 2, and type 3), which differ in terms of the severity and progression of hearing loss and the presence or absence of vestibular symptoms. Usher syndrome is defined by significant genetic heterogeneity, with at least 12 distinct loci described and 9 genes identified. This study aims to provide a molecular epidemiology report of Usher syndrome in Italy.
methodsMolecular data have been obtained on 75 unrelated Italian patients using the most up-to date technology available for the screening of Usher syndrome gene mutations, i.e., the genotyping microarray developed by Asper Biotech (Tartu, Estonia), which simultaneously investigates 612 different marker positions using the well established arrayed primer extension methodology (APEX).
resultsUsing this method, we found that 12% of cases (9 out of 75) harbored homozygous or compound heterozygous mutations in the gene positions analyzed, whereas 20% (15 out of 75) of the patients were characterized by the presence of only one mutated allele based on the positions analyzed. One patient was found to be compound heterozygous for mutations in two different genes and this represents an example of possible digenic inheritance in Usher syndrome. A total of 66.6% of cases (50 out of 75) were found to be completely negative for the presence of Usher syndrome gene mutations in the detected positions. Mutations detected by the array were confirmed by direct sequencing.
conclusionsThese findings highlight the efficacy of the APEX-based genotyping approach in the molecular assessment of Usher patients, suggesting the presence of alleles not yet identified and/or the involvement of additional putative genes that may account for the pathogenesis of Usher syndrome.
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21738395PMC3130723W1875279222What OpenQuestion holds
Registered trials
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