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Genetic analysis of patients with low-frequency non-syndromic hearing loss.

Molecular genetics and genomics : MGG - 25 Dec 2024

Yu Sha, Li Weitao, Lin Xinhao, Chen Liheng, Chen Wenxia, Guo Luo, Shu Yilai

Abstract excerpt

Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4),...

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PMID: 39720982
DOI: 10.1007/s00438-024-02209-3

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