ArticleActa oto-laryngologica2011
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.
Article in Acta oto-laryngologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 21 citations in OpenAlex.
- Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Genetic testing and molecular biomarkers · 2015Trial
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Whole-exome sequencing ofF1000Research · 2021Article
- Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.Human genome variation · 2020Article
- PharmGKB summary: very important pharmacogene information for MT-RNR1.Pharmacogenetics and genomics · 2016Review
- Article
- Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.PloS one · 2015Article
- Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.Orphanet journal of rare diseases · 2013Article
- Otoprotective effects of erythropoietin on Cdh23erl/erl mice.Neuroscience · 2013Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
conclusionGJB2 mutation was frequent in sporadic outpatients and its mutation frequency was significant higher in the prelingual group than in the postlingual group, whereas the mutation of mtDNA A1555G and SLC26A4 was very rare in Chinese sporadic outpatients with nonsyndromic sensorineural hearing loss (NSHL). Standard and comprehensive inclusion and grouping criteria are necessary for epidemiological studies of deafness-related gene mutations.
objectivesThis study aimed to examine the mutations of the three common deafness genes GJB2, SLC26A4, and mtDNA A1555G in Chinese sporadic outpatients with NSHL and to discuss the factors that influence the detection accuracy of mutation frequencies.
methodsA total of 473 sporadic NSHL patients without any type of inner ear malformation, including both prelingual and postlingual groups were enrolled in this study. Three genes of mtDNA A1555G, GJB2, and SLC26A4 were screened for mutation in our study cohort. A chi-square test was performed to compare mutation frequencies between prelingual and postlingual groups.
resultsThe mutation frequencies of MtDNA A1555G, GJB2, and SLC26A4 were 1.63%, 13.63%, and 0%, respectively, in our study cohort. The mutational hot spot of GJB2 was c.235delC, whose allele frequency was 12.68% in sporadic outpatients. Mutation frequency of GJB2 in the prelingual group was significantly higher than in the postlingual group (p < 0.05).
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