ArticleActa oto-laryngologica2008
Audiological and genetic features of the mtDNA mutations.
Article in Acta oto-laryngologica, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- Delineating the Disease Boundaries: HomozygousMolecular syndromology · 2024Article
- Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.BMC medical genomics · 2022Article
- The Importance of Early Genetic Diagnostics of Hearing Loss in Children.Medicina (Kaunas, Lithuania) · 2020Review
- Review
- Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment.BMC ear, nose, and throat disorders · 2018Article
- Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss.Medicine · 2017Observational
- Article
- Audiologic and genetic features of the A3243G mtDNA mutation.Genetic testing and molecular biomarkers · 2013Article
- Genetics of hearing and deafness.Anatomical record (Hoboken, N.J. : 2007) · 2012Review
- Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.Acta oto-laryngologica · 2011Article
- The genetic bases for non-syndromic hearing loss among Chinese.Journal of human genetics · 2009Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
conclusionsSignificant difference in the incidence of mitochondrial DNA (mtDNA) mutations was found between the Chinese and USA populations. The identification of the mtDNA A1555G mutation in a large proportion of Chinese probands with nonsyndromic sensorineural hearing loss (NSHL) provides a molecular explanation for the high prevalence of aminoglycoside-induced deafness in China.
objectiveThe aim was to characterize the audiological and genetic features of NSHL due to mutations in mtDNA. SUBJECTS AND
methodsThe mtDNA and audiogram analyses were performed in 498 NSHL patients (290 from China and 208 from the USA) with and without history of aminoglycoside exposure. A PCR and restriction enzyme digestion protocol was used for mutational screening and the European Workshop on Genetic Hearing Loss criteria were applied for audiological classification.
resultsAll Chinese probands (15.5%) with mtDNA mutation were found to carry the homoplasmic mtDNA A1555G mutation, whereas four probands (1.9%) from the USA were found to carry the mtDNA A1555G and two (1%) had mtDNA G7444A. Approximately 63% of the probands with mtDNA mutations had post-lingual hearing loss and 56.8% of them had a medical history of exposure to aminoglycosides. Hearing losses are bilateral, sensorineural, and symmetric. The main audiogram shapes found were sloping.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.