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Article

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

BMC medical genomics - 20 Feb 2024

Li Yan-Qiong, Ma Heng, Wang Qin-Yao, Liu De-Sheng, Wang Wei, Li Shi-Xin, Zuo Rong-Xia, Shen Tao, Zhu Bao-Sheng, Sa Ya-Lian

Abstract excerpt

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...

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PMID: 38378613
DOI: 10.1186/s12920-024-01829-3
PMCID: PMC10877886

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