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Article

Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.

Scientific reports - 25 Oct 2021

Hu Chin-Ju, Lu Ying-Chang, Tsai Cheng-Yu, Chan Yen-Hui, Lin Pei-Hsuan, Lee Yi-Shan, Yu I-Shing, Lin Shu-Wha, Liu Tien-Chen, Hsu Chuan-Jen, Yang Ting-Hua, Cheng Yen-Fu, Wu Chen-Chi

Abstract excerpt

Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans. Of the SLC26A4 variants identified thus far, the p.T721M variant is of interest, as it appears to confer a more severe pathogenicity than most of the other missense variants,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34697379
DOI: 10.1038/s41598-021-00448-7
PMCID: PMC8545921

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