ArticleJournal of human genetics2020
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?Clinical genetics · 2026Article
- Elucidating the genetic landscape of inherited retinal disorders in India.Human genomics · 2026Review
- Transcriptomic and metabolomic basis of seasonal auditory sensitivity variations in the red-eared slider (Trachemys scripta elegans).BMC genomics · 2025Article
- Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.Journal of clinical & translational endocrinology · 2025Article
- Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.Case reports in genetics · 2025Article
- Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2.Scientific reports · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Preliminary investigation of the diagnosis and gene function of deep learning PTPN11 gene mutation syndrome deafness.Frontiers in genetics · 2023Article
- Genetic etiology of non-syndromic hearing loss in Europe.Human genetics · 2022Review
- Usher Syndrome.Audiology research · 2022Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-syndromic hearing loss (NSHL) is characterized by a vast genetic heterogeneity; some syndromic forms as Usher syndrome (USH) have onset as isolated deafness and then evolve later in life. We developed an NGS targeted gene-panel containing 59 genes and a customized bioinformatic pipeline for the analysis of DNA samples from clinically highly selected subjects with sensorineural hearing loss, previously resulted negative for GJB2 mutations/GJB6 deletions. Among the 217 tested subjects, 24 (11.1%) were found to carry mutations in genes involved both in NSHL and USH. For 6 out of 24 patients a diagnosis of USH was performed. Eleven subjects out of 24 had hearing loss without vestibular or ocular dysfunction and, due to their young age, it was not possible to establish whether their phenotype could be NSHL or USH. Seven subjects were diagnosed with NSHL, due to their age and phenotype. A total of 41 likely pathogenic/pathogenic mutations were identified, among which 17 novel ones. We report a high frequency of mutations in genes involved both in NSHL and in USH in a cohort of individuals tested for seemingly isolated deafness. Our data also highlight a wider than expected phenotypic variability in the USH phenotype.
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