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- W4366241808 abstract "Abstract Background GJB2 mutations are among the most important causes of deafness, and their prevalence varies greatly among different countries and ethnic groups. This study aimed to determine the pathogenic mutation spectrum of GJB2 in patients with nonsyndromic hearing loss (NSHL) in Western Guangdong and to explore the pathogenic characteristics of the c.109G>A locus. Methods In total, 97 NSHL patients and 212 normal controls (NC) were included in this study. Genetic sequencing analyses were performed on GJB2 . Results In the NSHL group, the main pathogenic mutations in GJB2 were as follows: c.109G>A, c.235delC, and c.299_300delAT with allele frequencies of 9.28%, 4.12%, and 2.06%, respectively. c.109G>A was the most frequently detected pathogenic mutation in this region. In the NC group, the allele frequency of c.109G>A among 30–50 years old subjects was markedly lower than that among 0–30 years old subjects (5.31% vs. 11.11%, p < 0.05). Conclusion We found the pathogenic mutation spectrum of GJB2 in this region and showed that c.109G>A was the most common GJB2 mutation with unique characteristics, such as clinical phenotypic heterogeneity and delayed onset. Therefore, the c.109G>A mutation should be considered as an essential marker for routine genetic assessment of deafness, which can also be beneficial for preventing deafness." @default.
- W4366241808 created "2023-04-20" @default.
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- W4366241808 date "2023-04-18" @default.
- W4366241808 modified "2023-10-18" @default.
- W4366241808 title "Analysis of <scp><i>GJB2</i></scp> gene mutations spectrum and the characteristics of individuals with c.<scp>109G</scp>>A in Western Guangdong" @default.
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- W4366241808 doi "https://doi.org/10.1002/mgg3.2185" @default.
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