Trial reportGenetic testing and molecular biomarkers2015
Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Trial report in Genetic testing and molecular biomarkers, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.Biomedical reports · 2025Article
- Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.BMC medical genomics · 2024Article
- The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Article
- A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.Molecular genetics & genomic medicine · 2024Article
- Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.Molecular genetics & genomic medicine · 2023Article
- Genetics of Inner Ear Malformations: A Review.Audiology research · 2021Review
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.Scientific reports · 2021Article
- Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.Frontiers in genetics · 2021Article
- [Application of PCR reverse dot blot in non-syndromic deafness gene detection].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2020Article
- Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report.BMC oral health · 2019Article
- Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.Molecular genetics & genomic medicine · 2019Article
- Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration.Frontiers in molecular neuroscience · 2017Review
- Navigating genetic diagnostics in patients with hearing loss.Current opinion in pediatrics · 2016Review
- Characterization of ATPase Activity of P2RX2 Cation Channel.Frontiers in physiology · 2016Article
- Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.Genetics and molecular biologyArticle
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study the distribution characteristics of common mutations in the GJB2, SLC26A4, and mtDNA genes in children with severe or profound sensorineural hearing loss (SNHL) in southwestern China. MATERIALS AND
methodsA total of 1,164 individuals were recruited to screen for the common GJB2, SLC26A4, and mtDNA mutations by microarrays. Subsequencing for the coding region of the GJB2 gene in the samples without the GJB2 hotspot mutations as well as subsequencing for the exon 1 of the TRMU gene in those samples with the mtDNA hotspot mutations was performed by Sanger sequencing. All mutations were analyzed in association with medical imaging.
resultsIn this study, 28.43% of all subjects carried mutations. The mutation frequencies in the GJB2, SLC26A4, and mtDNA genes were 17.27%, 7.04%, and 4.12%, respectively. No TRMU mutation was found in the study. The frequency of the mtDNA mutations in the multiethnic minorities was six times that in the Han (11.23% vs. 1.91%; p approaches 0.000) and in the urban group was one-third of that in the suburban group(1.49% vs. 4.47%; p=0.047). The frequency of the GJB2 mutations in urban and suburban groups was 23.38% and 15.99%, respectively (p=0.012). The enlarged vestibular aqueduct (EVA) was the most common inner ear malformation and ∼79.10% of EVA cases were associated with the SLC26A4 mutations.
conclusionsMore than one-fourth of children with severe or profound SNHL carried the common deafness mutations. The proportions of ethnic minorities and urban subjects could impact the frequency of the GJB2 and mtDNA mutations. The SLC26A4 hotspot mutations are prevalent and correlate strongly with EVA.
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