ArticleMitochondrion2010
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.
Article in Mitochondrion, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?African journal of paediatric surgery : AJPSPooled it
- 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
- Genetic susceptibility to aminoglycoside cochleotoxicity in South African multidrug-resistant and rifampicin-resistant tuberculosis patients.The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings · 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
- Analysis of the Expression and Mutation of Several Genes Related to Hearing Loss in Children in Vietnam.Cureus · 2026Article
- Mechanisms, prevention, and management of aminoglycoside-induced hearing loss in neonates and children: a translational review.Frontiers in pharmacology · 2026Review
- Pharmacogenomics of antibiotic-induced hypersensitivity reactions: current evidence and implications in clinical practice.Frontiers in pharmacology · 2025Review
- Pharmacological Approaches to Hearing Loss.Pharmacological reviews · 2024Review
- Genetic Variations and Antibiotic-Related Adverse Events.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Article
- Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases.PloS one · 2024Article
- Aminoglycosides-Related Ototoxicity: Mechanisms, Risk Factors, and Prevention in Pediatric Patients.Pharmaceuticals (Basel, Switzerland) · 2023Review
- Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.Journal of clinical laboratory analysis · 2023Article
- Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.Frontiers in physiology · 2023Article
- Mitophagy in ototoxicity.Frontiers in cellular neuroscience · 2023Review
- Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.BMC medical genomics · 2022Article
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- The Diseased Mitoribosome.FEBS letters · 2021Review
- Targeted next-generation sequencing of deaf patients from Southwestern China.Molecular genetics & genomic medicine · 2021Article
- [Progress in genetic susceptibility to aminoglycoside-induced deafness].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 3 institutions in 2 countries.
Funding
Abstract
In this report, we investigated the frequency and spectrum of mitochondrial 12S rRNA variants in a large cohort of 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mutational analysis of 12S rRNA gene in these subjects identified 68 (54 known and 14 novel) variants. The frequencies of known 1555A>G and 1494C>T mutations were 3.96% and 0.18%, respectively, in this cohort with nonsyndromic and aminoglycoside-induced hearing loss. Prevalence of other putative deafness-associated mutation at positions 1095 and 961 were 0.61% and 1.7% in this cohort, respectively. Furthermore, the 745A>G, 792C>T, 801A>G, 839A>G, 856A>G, 1027A>G, 1192C>T, 1192C>A, 1310C>T, 1331A>G, 1374A>G and 1452T>C variants conferred increased sensitivity to ototoxic drugs or nonsyndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this rRNA. However, other variants appeared to be polymorphisms. Moreover, 65 Chinese subjects carrying the 1555A>G mutation exhibited bilateral and sensorineural hearing loss. A wide range of severity, age-of-onset and audiometric configuration was observed among these subjects. In particular, the sloping and flat-shaped patterns were the common audiograms in individuals carrying the 1555A>G mutation. The phenotypic variability in subjects carrying these 12S rRNA mutations indicated the involvement of nuclear modifier genes, mitochondrial haplotypes, epigenetic and environmental factors in the phenotypic manifestation of these mutations. Therefore, our data demonstrated that mitochondrial 12S rRNA is the hot spot for mutations associated with aminoglycoside ototoxicity.
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