Clinical and genetic architecture of a large cohort with auditory neuropathy

• DOI: 10.1007/s00439-024-02652-7
• Publication Date: 2024-03-08T10:01:42Z
• Authors: Hongyang Wang; Liping Guan; Xiaonan Wu; Jing Guan; Jin Li; Nan Li; Kaili Wu; Ya Gao; Dan Bing; Jianguo Zhang; Lan Lan; Tao Shi; Danyang Li; Wenjia Wang; Linyi Xie; Fen Xiong; Wei Shi; Lijian Zhao; Dayong Wang; Ye Yin; Qiuju Wang
• Keywords: Auditory neuropathy; Proband

Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate genetic contribution that has been deciphered in large cohort. In retrospective cohort 311 patients AN, pathogenic and likely variants 23 genes were identified 98 (31.5% patients), 14 mutated two or more patients. Among subgroups the prevalence was 54.4% 56.2% trios families, while 22.9% cases proband-only; 45.7% 25.6% infant non-infant group; 33.7% 0% bilateral unilateral AN cases. Most OTOF gene (96.6%, 28/29) could only be group, AIFM1 other such as ATP1A3 OPA1 both groups. conclusion, distribution most common being AIFM1, totally different from sensorineural hearing loss. The onset ages showed spectrums, so did groups sporadic familial trio