ArticleJournal of medical genetics2006
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?Frontiers in physiology · 2023Review
- Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.Medicine · 2020Observational
- Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Journal of otology · 2017Review
- PharmGKB summary: very important pharmacogene information for MT-RNR1.Pharmacogenetics and genomics · 2016Review
- The history of the North African mitochondrial DNA haplogroup U6 gene flow into the African, Eurasian and American continents.BMC evolutionary biology · 2014Article
- An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.Frontiers in genetics · 2014Article
- Aminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy.PloS one · 2014Article
- [Etiologic profile of severe and profound sensorineural hearing loss in children in the region of north-central Morocco].The Pan African medical journal · 2014Article
- Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.International journal of molecular medicine · 2013Article
- Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.Journal of translational medicine · 2011Article
- Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.Mitochondrion · 2010Article
- Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Pharmacogenetics and genomics · 2008Article
- The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.Biochemical and biophysical research communications · 2007Article
- Article
- Ototoxicity and otoprotection in the inner ear of guinea pigs using gentamicin and amikacin: ultrastructural and functional aspects.Brazilian journal of otorhinolaryngologyArticle
- mtDNA mutations, hearing loss and aminoglycoside treatment in Mexicans.Brazilian journal of otorhinolaryngologyArticle
- C1494T mitochondrial DNA mutation, hearing loss, and aminoglycosides antibiotics.Brazilian journal of otorhinolaryngologyArticle
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, the 1494C-->T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL. In this study, sequencing of the 12S rRNA gene in a Spanish family with maternally inherited NSHL showed the presence of the 1494C-->T mutation. An additional screening of 1339 unrelated Spanish patients with NSHL allowed the authors to find two other families with the mutation. Audiological data were obtained from 17 confirmed 1494C-->T carriers, which showed that the hearing loss was sensorineural, bilateral and symmetrical, with a remarkable variability in age of onset and severity. Three carriers were asymptomatic. Three affected carriers had a history of treatment with aminoglycoside antibiotics. The mitochondrial genome of one affected person from each of these three families was entirely sequenced, and it was established that they belong to different mitochondrial haplogroups (H, U5b, U6a). The study results further support the pathogenic role of 1494C-->T on hearing, and show that this mutation can be found in different Caucasian mitochondrial DNA backgrounds.
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