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. 2023 Aug;11(8):e2185.
doi: 10.1002/mgg3.2185. Epub 2023 Apr 18.

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong

Shaoming Liang  1   2 , Weihong Li  3 , Zhichao Chen  1 , Shimin Yuan  4 , Zhao Wang  1
Affiliations

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong

Shaoming Liang et al. Mol Genet Genomic Med. 2023 Aug.

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.

Keywords: c.109G>A (p.Val37Ile); delayed onset; hearing loss; nonsyndromic hearing loss (NSHL); phenotypic heterogeneity.

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Conflict of interest statement

The authors declare no competing interests at the time of publication.

Figures

FIGURE 1
FIGURE 1
Sequencing results and the frequencies of pathogenic mutations in GJB2. (a) The location of c.299_300delAT homozygous mutation. (b) The location of c.109G>A heterozygous mutation. (d) The location of c.235delC heterozygous mutation. The black arrows indicate single nucleotide mutations. (d) Frequencies of GJB2 mutations in 23 cases with hearing loss. GJB2 (NM_004004.6).
FIGURE 2
FIGURE 2
Representative audiograms results. (a) Pure tone audiometry (PTA) result of a severe subject. (b) Auditory brainstem response (ABR) result of a profound hearing loss patient.
See this image and copyright information in PMC

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