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The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.

Neuroreport - 4 Aug 2021

Qi Yue, Gong Shusheng, Liu Ke, Song Yueshuai

Abstract excerpt

Auditory neuropathy is sensorineural deafness where sound signals cannot be transmitted synchronously from the cochlea to the auditory center. Abnormal expression of vesicle glutamate transporter 3 (VGluT3) encoded by the SLC17a8 gene is associated with the pathophysiology of auditory neuropathy. Although several suspected pathogenic mutations of the SLC17a8 gene have been identified in humans, few studies have...

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PMID: 34145196
DOI: 10.1097/WNR.0000000000001687

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