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Article

Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.

Orphanet journal of rare diseases - 17 Oct 2025

Wang Hongyang, Shi Tao, Wang Wenjia, Li Jin, Chen Ziyi, Lan Lan, Xie Linyi, Xiong Fen, Wang Dayong, Guan Jing, Wang Qiuju

Abstract excerpt

BACKGROUND: Auditory neuropathy (AN) represents a clinical manifestation of OPA1-related diseases. The diagnostic process of these diseases is challenging owing to the broad spectrum of intermediate phenotypes and diverse inherited patterns. The aim of this study was to comprehensively delineate the feature of OPA1-related patients in a Chinese AN cohort, encompassing the incident rate, inherited pattern,...

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Identifiers

PMID: 41107984
DOI: 10.1186/s13023-025-04040-4
PMCID: PMC12534986

Genes

OPA1
AR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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