ArticleScientific reports2017
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 1 citations in OpenAlex.
- Integrated Proteomic and Lipidomic Profiling of Aqueous Humor Reveals Inflammatory Signatures in Retinitis Pigmentosa.Biomedicines · 2026Article
- Study on the Mechanism of Hearing Loss Induced by USH2A Gene Knockout.Human mutation · 2026Article
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.BMC ophthalmology · 2024Article
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.Audiology research · 2024Review
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.Biomedicines · 2023Article
- Characteristics of Retinitis Pigmentosa Associated withInternational journal of molecular sciences · 2021Article
- [A case report of congenital sensorineural deafness caused by novel mutation in Usher1C and related literature analysis].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2020Article
- The Era of Precision Medicine: Reshaping Usher Syndrome.Clinical and experimental otorhinolaryngology · 2020Article
- Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.European journal of human genetics : EJHG · 2020Article
- Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.BMC medical genetics · 2019Article
- Genetic Screening of the Usher Syndrome in Cuba.Frontiers in genetics · 2019Article
- High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.Scientific reports · 2018Article
- Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.PloS one · 2018Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations. USH1 patients experienced hearing problems very early in life, followed by visual impairment at 1, 4 and 6 years. Visual symptoms were noticed at age 20 in a patient with homozygous novel MYO7A missense mutation c.849G > A. USH2 patients' auditory symptoms, instead, arose between 11 months and 14 years, while visual impairment occurred later on. A homozygous c.5933_5940del;5950_5960dup in USH2A was detected in one patient with early deafness. One patient with homozygous deletion from exon 23 to 32 in USH2A suffered early visual symptoms. Therefore, the type of mutation in USH2A and MYO7A genes seems to affect the age at which both auditory and visual impairment occur in patients with USH.
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