ArticleThe journal of international advanced otology2021
Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.
Article in The journal of international advanced otology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 4 citations in OpenAlex.
- Rapid detection of theOpen life sciences · 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
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5 authors at 3 institutions in 1 country.
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Abstract
backgroundThe aim of this study is to compare the spectrum and frequency of GJB2, SLC26A4, GJB3, and MT-RNR1 mutations in 4 different areas of China.
methodsA total of 509 patients from Linyi, Xinxiang, Yichang, and Baise were enrolled in this study. Twenty of the most common mutation sites were analyzed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
resultsPatients from Yichang (in central China; 22.50%) and Linyi (in eastern China; 23.55%) carried a greater proportion of the 5 most common GJB2 mutations compared with patients from the other 2 areas surveyed, namely Xinxiang (in the North China Plain) and Baise (in south-central China). In comparison, patients from Yichang (10.00%) and Xinxiang (12.94%) had a higher prevalence of the 11 most common SLC26A4 mutations. Interestingly, only 1 patient (1.47%) from Baise was confirmed to carry the c.1229C>T mutation of SLC26A4. Among the 20 mutation sites analyzed across these 4 genes, c.235delC in GJB2 and c.919-2A>G in SLC26A4 were the most common mutations across all 4 geographical regions. The c.235delC mutation in GJB2 was significantly more prevalent in Yichang (18.13%) and Linyi (18.31%) than in the other 2 areas, whereas the c.919-2A>G allele of SLC26A4 was present at much higher frequencies in Yichang (8.44%) and Xinxiang (8.74%) compared with the other areas.
conclusionsThis study increases the available data on hearing loss-associated mutations and provides evidence of the need for risk assessment and genetic counseling of populations from these 4 areas of China.
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