ArticleHuman genetics2005
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
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Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 172 citations in OpenAlex.
- Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.Clinical pharmacology and therapeutics · 2022Guideline
- Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening.Journal of human genetics · 2014Trial
- Analysis of the Expression and Mutation of Several Genes Related to Hearing Loss in Children in Vietnam.Cureus · 2026Article
- M.827A>G Variant in MT-RNR1 and Its Association With Hearing Loss: A Study in the Taiwanese Adult Population.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026Article
- Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.The Laryngoscope · 2025Observational
- Rapid point of care testing: the next frontier in pharmacogenomics.Pharmacogenomics · 2024Article
- Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.Journal of Korean medical science · 2023Article
- Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.Frontiers in physiology · 2023Article
- Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.Medicina (Kaunas, Lithuania) · 2022Review
- Contribution of mitochondrial gene variants in diabetes and diabetic kidney disease.Frontiers in endocrinology · 2022Article
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- A Novel Approach for the Identification of Pharmacogenetic Variants inJournal of clinical medicine · 2020Article
- Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Development of a community-based hearing loss prevention and control service model in Guangdong, China.BMC public health · 2019Article
- The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence.Journal of human genetics · 2019Article
- Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.Experimental and therapeutic medicine · 2019Article
- Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.BMC medical genetics · 2018Article
- Analysis of mitochondrial A1555G mutation in infants with hearing impairment.Experimental and therapeutic medicine · 2018Article
- Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.Journal of cellular and molecular medicine · 2017Article
- Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Journal of otology · 2017Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside ototoxicity accounts for 48% of cases of hearing loss in this Chinese pediatric population. Of the known deafness-associated mutations in this gene, the incidence of the A1555G mutation is approximately 13% and approximately 2.9% in this Chinese pediatric population with aminoglycoside-induced and non-syndromic hearing loss, respectively. Furthermore, mutations at position 961 in the 12S rRNA gene account for approximately 1.7% and 4.4% of cases of aminoglycoside-induced and non-syndromic hearing loss in this Chinese clinical population, respectively. The T1095C mutation has been identified in one maternally inherited family with aminoglycoside-induced and non-syndromic hearing loss. However, the C1494T mutation was not detected in this clinical population. In addition, three variants, A827G, T1005C and A1116G, in the 12S rRNA gene, localized at highly conserved sites, may play a role in the pathogenesis of aminoglycoside ototoxicity. These data strongly suggest that the mitochondrial 12S rRNA is a hot-spot for deafness-associated mutations in the Chinese population.
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