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. 2024 Feb 20;17(1):55.
doi: 10.1186/s12920-024-01829-3.

Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China

Yan-Qiong Li #  1   2 , Heng Ma #  3 , Qin-Yao Wang  1 , De-Sheng Liu  1   4 , Wei Wang  1 , Shi-Xin Li  1 , Rong-Xia Zuo  1 , Tao Shen  1 , Bao-Sheng Zhu  5 , Ya-Lian Sa  6
Affiliations

Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China

Yan-Qiong Li et al. BMC Med Genomics. .

Abstract

Background: Gene variants are responsible for more than half of hearing loss, particularly in nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 gene found in East Asian populations is c.919-2A > G followed by c.2168A > G (p.H723R). This study was to evaluate their variant frequencies in patients with NSHL from special education schools in nine different areas of Southwest China's Yunnan.

Methods: We performed molecular characterization by PCR-products directly Sanger sequencing of the SLC26A4 c.919-2AG and c.2168 A > G variants in 1167 patients with NSHL including 533 Han Chinese and 634 ethnic minorities.

Results: The SLC26A4 c.919-2A > G variant was discovered in 8 patients with a homozygous state (0.69%) and twenty-five heterozygous (2.14%) in 1167 patients with NSHL. The total carrier rate of the c.919-2A > G variant was found in Han Chinese patients with 4.50% and ethnic minority patients with 1.42%. A significant difference existed between the two groups (P < 0.05). The c.919-2A > G allele variant frequency was ranged from 3.93% in Kunming to zero in Lincang and Nvjiang areas of Yunnan. We further detected the SLC26A4 c.2168 A > G variant in this cohort with one homozygotes (0.09%) and seven heterozygotes (0.60%), which was detected in Baoshan, Honghe, Licang and Pu`er areas. Between Han Chinese group (0.94%) and ethnic minority group (0.47%), there was no statistical significance (P > 0.05). Three Han Chinese patients (0.26%) carried compound heterozygosity for c.919-2A > G and c.2168 A > G.

Conclusion: These data suggest that the variants in both SLC26A4 c.919-2A > G and c.2168 A > G were relatively less frequencies in this cohort compared to the average levels in most regions of China, as well as significantly lower than that in Han-Chinese patients. These results broadened Chinese population genetic information resources and provided more detailed information for regional genetic counselling for Yunnan.

Keywords: Chinese population; Gene variant; Nonsyndromic hearing loss; SLC26A4; c.2168 A > G; c.919-2A > G.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
The demographics in nine areas of Yunnan including the counts of participants and SLC26A4 c.919-2A > G and c.2168A > G variants
See this image and copyright information in PMC

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References

    1. GBD 2019 Hearing Loss Collaborators Hearing loss prevalence and years lived with disability, 1990–2019: findings from the Global Burden of Disease Study 2019. Lancet. 2021;397(10278):996–1009. doi: 10.1016/S0140-6736(21)00516-X. - DOI - PMC - PubMed
    1. Meena R, Ayub M. Genetics Of Human Hereditary Hearing Impairment. J Ayub Med Coll Abbottabad. 2017;29(4):671–676. - PubMed
    1. Wasano K, Takahashi S, Rosenberg SK, Kojima T, Mutai H, Matsunaga T, Ogawa K, Homma K. Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants. Hum Mutat. 2020;41(1):316–331. doi: 10.1002/humu.23930. - DOI - PMC - PubMed
    1. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) Nat Genet. 1997;17(4):411–422. doi: 10.1038/ng1297-411. - DOI - PubMed
    1. Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X. Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. Medicine (Baltimore) 2015;94(50):e2248. doi: 10.1097/MD.0000000000002248. - DOI - PMC - PubMed

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