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Article

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

The Journal of physiology - 1 Mar 2024

Takahashi Satoe, Zhou Yingjie, Cheatham Mary Ann, Homma Kazuaki

Abstract excerpt

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 and missense changes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38431907
DOI: 10.1113/JP285599
PMCID: PMC10942758

Genes

SLC26A5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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