ArticleJournal of medical genetics1997
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 136 citations in OpenAlex.
- Adverse effects of a single dose of gentamicin in adults: a systematic review.British journal of clinical pharmacology · 2018Pooled it
- Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.Asian biomedicine : research, reviews and news · 2024Article
- The Mitochondrial COI/tRNABalkan journal of medical genetics : BJMG · 2017Article
- Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Journal of otology · 2017Review
- Mitochondrial COI/tRNAInternational journal of clinical and experimental pathology · 2017Article
- A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.PloS one · 2017Article
- PharmGKB summary: very important pharmacogene information for MT-RNR1.Pharmacogenetics and genomics · 2016Review
- Successful MDR-TB treatment regimens including amikacin are associated with high rates of hearing loss.BMC infectious diseases · 2014Article
- Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort.Genetic testing and molecular biomarkers · 2012Article
- Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.International journal of pediatric otorhinolaryngology · 2011Article
- Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.Mitochondrion · 2010Article
- Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.Mitochondrion · 2010Article
- The genetic bases for non-syndromic hearing loss among Chinese.Journal of human genetics · 2009Review
- Audiological and genetic features of the mtDNA mutations.Acta oto-laryngologica · 2008Article
- Article
- Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.American journal of medical genetics. Part A · 2005Article
- Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.Human genetics · 2005Article
- Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.American journal of medical genetics. Part A · 2005Article
- Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.Nucleic acids research · 2005Article
- Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Irreversible hearing loss is a catastrophic complication of treatment with aminoglycoside antibiotics such as streptomycin, gentamycin, and kanamycin. Many kindreds showing a matrilineal pattern of inheritance of this trait have been described in China where the widespread use of aminoglycoside antibiotics accounts for approximately 25% of profound deafness in some districts. Because of the characteristic inheritance pattern, mitochondrial DNA (mtDNA) mutations were postulated to be the cause of the deafness in these pedigrees. In 1993 it was shown that an A to G substitution at base pair 1555 of the mitochondrial 12S ribosomal RNA gene was the only mutation common to all the families with aminoglycoside ototoxicity. We ascertained three Mongolian pedigrees from the School for the Deaf and Blind in Ulaanbaatar, all of which contained multiple affected subjects with streptomycin induced deafness in a pattern consistent with matrilineal transmission. Amplified mtDNA, obtained from transformed lymphoblastoid cell lines using previously described primers, showed the A to G point mutation in the 12S rRNA gene in two of the three families by restriction analysis as well as direct sequencing. No other example of this substitution was found among 400 control samples from Mongolians with normal hearing. We have thus confirmed the clinical relevance of the 1555 A to G mitochondrial mutation in the 12S rRNA gene by identifying it in affected subjects with familial aminoglycoside ototoxicity in another ethnic group. In countries where aminoglycosides are widely used, genetic counselling and screening of high risk families before the use of these drugs could have a dramatic effect on the incidence of deafness.
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