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Article

THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.

PLoS genetics - 1 Aug 2020

Zhang Luping, Gao Yu, Zhang Ru, Sun Feifei, Cheng Cheng, Qian Fuping, Duan Xuchu, Wei Guanyun, Sun Cheng, Pang Xiuhong, Chen Penghui, Chai Renjie, Yang Tao, Wu Hao, Liu Dong

Abstract excerpt

Apoptosis of cochlear hair cells is a key step towards age-related hearing loss. Although numerous genes have been implicated in the genetic causes of late-onset, progressive hearing loss, few show direct links to the proapoptotic process. By genome-wide linkage analysis and whole exome sequencing, we identified a heterozygous p.L183V variant in THOC1 as the probable cause of the late-onset, progressive,...

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PMID: 32776944
DOI: 10.1371/journal.pgen.1008953
PMCID: PMC7444544

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