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Article

Frequency and Hearing Loss Phenotypes of OPA1 Variants in a Cohort of 18,475 Patients with Hearing Impairment.

Genes - 19 Mar 2026

Kawakita Masayuki, Moteki Hideaki, Nishio Shin-Ya, Kobayashi Yumiko, Adachi Mika, Okano Takayuki, Yamazaki Hiroshi, Nakayama Jun, Ohira Shinya, Ishino Takashi, Takumi Yutaka, Usami Shin-Ichi

Abstract excerpt

BACKGROUND/OBJECTIVES: The OPA1 gene encodes a dynamin-related GTPase essential for mitochondrial fusion. Variants in OPA1 are a major cause of autosomal dominant optic atrophy (DOA). A subset of DOA patients exhibits hearing loss, often manifesting as auditory neuropathy spectrum disorder (ANSD). In this study, we aimed to describe the frequency of OPA1-related hearing loss in a large cohort of patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41898875
DOI: 10.3390/genes17030341
PMCID: PMC13025685

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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