Article
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Human genetics - 1 Mar 2024
Wang Hongyang, Guan Liping, Wu Xiaonan, Guan Jing, Li Jin, Li Nan, Wu Kaili, Gao Ya, Bing Dan, Zhang Jianguo, Lan Lan, Shi Tao, Li Danyang, Wang Wenjia, Xie Linyi, Xiong Fen, Shi Wei, Zhao Lijian, Wang Dayong, Yin Ye, Wang Qiuju
Abstract excerpt
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients. Among subgroups of patients with AN,...
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