ArticleHuman molecular genetics2012
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Pooled it
- miRNA gene mutations commonly disrupt the proper functioning of miRNA genes.Science advances · 2026Article
- Acquired sensorineural hearing loss, oxidative stress, and microRNAs.Neural regeneration research · 2025Article
- Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.Nucleic acids research · 2025Article
- Determination of Differential miRNA Expression Profile in People with Noise-Induced Hearing Loss.International journal of molecular sciences · 2025Article
- Therapeutic restoration of miR-96 prevents hearing loss in mice through modulation of noise-induced and genetic pathways.iScience · 2025Article
- Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.Genome medicine · 2024Article
- MicroRNA and Rare Human Diseases.Genes · 2024Review
- Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.International journal of molecular sciences · 2024Article
- Small Differences and Big Changes: The Many Variables of MicroRNA Expression and Function in the Brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Review
- Targeted genome editing restores auditory function in adult mice with progressive hearing loss caused by a human microRNA mutation.Science translational medicine · 2024Article
- A cell type-specific approach to elucidate the role of miR-96 in inner ear hair cells.Frontiers in audiology and otology · 2024Article
- A gain-of-function mutation in microRNA 142 is sufficient to cause the development of T-cell leukemia in mice.Cancer science · 2023Article
- The long and short: Non-coding RNAs in the mammalian inner ear.Hearing research · 2023Review
- NcRNA: key and potential in hearing loss.Frontiers in neuroscience · 2023Review
- MiR-29a-deficiency causes thickening of the basilar membrane and age-related hearing loss by upregulating collagen IV and laminin.Frontiers in cellular neuroscience · 2023Article
- MicroRNA Signature and Cellular Characterization of Undifferentiated and Differentiated House Ear Institute-Organ of Corti 1 (HEI-OC1) Cells.Journal of the Association for Research in Otolaryngology : JARO · 2022Article
- Depletion of miR-96 Delays, But Does Not Arrest, Photoreceptor Development in Mice.Investigative ophthalmology & visual science · 2022Article
- Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach.Genomics & informatics · 2022Article
- Consequences of genetic variants in miRNA genes.Computational and structural biotechnology journal · 2022Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
The miR-96, miR-182 and miR-183 microRNA (miRNA) family is essential for differentiation and function of the vertebrate inner ear. Recently, point mutations within the seed region of miR-96 were reported in two Spanish families with autosomal dominant non-syndromic sensorineural hearing loss (NSHL) and in a mouse model of NSHL. We screened 882 NSHL patients and 836 normal-hearing Italian controls and identified one putative novel mutation within the miR-96 gene in a family with autosomal dominant NSHL. Although located outside the mature miR-96 sequence, the detected variant replaces a highly conserved nucleotide within the companion miR-96*, and is predicted to reduce the stability of the pre-miRNA hairpin. To evaluate the effect of the detected mutation on miR-96/mir-96* biogenesis, we investigated the maturation of miR-96 by transient expression in mammalian cells, followed by real-time reverse-transcription polymerase chain reaction (PCR). We found that both miR-96 and miR-96* levels were significantly reduced in the mutant, whereas the precursor levels were unaffected. Moreover, miR-96 and miR-96* expression levels could be restored by a compensatory mutation that reconstitutes the secondary structure of the pre-miR-96 hairpin, demonstrating that the mutation hinders precursor processing, probably interfering with Dicer cleavage. Finally, even though the mature miR-96 sequence is not altered, we demonstrated that the identified mutation significantly impacts on miR-96 regulation of selected targets. In conclusion, we provide further evidence of the involvement of miR-96 mutations in human deafness and demonstrate that a quantitative defect of this miRNA may contribute to NSHL.
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