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The c824C>A and c616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3

Neuroreport. 2021-08; 
Yue Qi, Shusheng Gong, Ke Liu, Yueshuai Song
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Gene Synthesis … á μl mRNA forward primer (20á μM), 0.08á μl mRNA reverse primer (20á μM), 2á μl cDNA template, 0.4áμl Taq DNA polymerase (2.5áU … 20, 5% w/v non-fat milk) for 1 h. The membranes were incubated with diluted primary antibody (FLAG antibody, A00187, GenScript, 1:10á000 … Get A Quote

摘要

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 confirmed their pathogenicity. Here, we describe the effects of two known suspected pathogenic mutations (c.824C>A and c.616dupA) in the SLC17a8 gene coding VGluT3 protein and analyzed the potential pathogenicity of these mutations. The p.M206Nfs4 and p.A275D changes are caused by c.824C>A and c.616dupA ... More

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