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

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Authors

Masayuki Kawakita · Shinshu University

Hideaki Moteki · Shinshu University

Shin-ya Nishio · Shinshu University

Yumiko Kobayashi · Iwate Medical University

Mika Adachi · Tohoku University Hospital

Takayuki Okano · Fujita Health University

Hiroshi Yamazaki ·

Abstract

<i>OPA1</i> is a rare causative gene for hearing loss and is frequently associated with the ANSD phenotype. Affected individuals exhibited phenotypic heterogeneity, which may reflect incomplete penetrance or the influence of mitochondrial DNA-related factors.

Topics & Keywords

Mitochondrial Function and Pathology Genetic Neurodegenerative Diseases Hearing, Cochlea, Tinnitus, Genetics

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Genes

Volume 17, Issue 3, pp. 341-341

DOI: 10.3390/genes17030341

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