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Article

CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.

Gene therapy - 1 Nov 2024

Huang Chun-Ying, Tsai Yi-Hsiu, Cheng Yi-Fen, Wu Peng-Yu, Chuang Yu-Chi, Huang Po-Yuan, Liu Jai-Shin, Wu Chen-Chi, Cheng Yen-Fu

Abstract excerpt

SLC26A4 encodes pendrin, a crucial anion exchanger essential for maintaining hearing function. Mutations in SLC26A4, including the prevalent c.919-2 A > G splice-site mutation among East Asian individuals, can disrupt inner ear electrolyte balance, leading to syndromic and non-syndromic hearing loss, such as Pendred syndrome and DFNB4. To explore potential therapeutic strategies, we utilized CRISPR/Cas9-mediated...

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Identifiers

PMID: 39232211
DOI: 10.1038/s41434-024-00483-9

Genes

SLC26A4

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CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.PMID 39232211Read ↗

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