Yue Qiu, Hongyang Wang, Mingjie Fan, Huaye Pan, Jing Guan, Yangwei Jiang, Zexiao Jia, Kaiwen Wu, Hui Zhou, Qianqian Zhuang, Zhaoying Lei, Xue Ding, Huajian Cai, Yufei Dong, Lei Yan, Aifu Lin, Yong Fu, Dong Zhang, Qingfeng Yan, Qiuju Wang
Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment caused by dysfunction of inner hair cells, ribbon synapses, spiral ganglion neurons and/or the auditory nerve itself. Approximately 1/7000 newborns have abnormal auditory nerve function, accounting for 10%-14% of cases of permanent hearing loss in children. Although we previously identified the AIFM1 c.1265 G > A variant to be associated with ANSD, the mechanism by which ANSD is associated with AIFM1 is poorly understood...
June 26, 2023: Cell Death & Disease