Article

The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss

2023-08-22

Abstract excerpt

<h4>ABSTRACT</h4> DFNB61 is a recessively inherited nonsyndromic hearing loss caused by mutations in SLC26A5 , the gene that encodes the voltage-driven motor protein, prestin. Prestin is abundantly expressed in the auditory outer hair cells that mediate cochlear amplification. Two DFNB61-associated SLC26A5 variants, p.W70X and p.R130S, were identified in patients who are compound heterozygous for these nonsense...

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Literature Corpus work: 6eab273e-f1fa-5bb1-aff1-e9f7b647383e
DOI: 10.1101/2023.08.21.554157

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