Rare missense variants in <i>MYO7A</i> and <i>OTOP2</i> genes in a South Korean Meniere’s disease cohort

BACKGROUND: Meniere's disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes remain to be established in non-Finnish European populations. METHODS: By exome sequencing and rare variant analysis, we have searched for existing and novel genes associated with MD in a South Korean cohort of 16 MD individuals with bilateral sensorineural hearing loss. RESULTS: concentrations. CONCLUSION: gene, previously associated with European MD, have been found in the South Korean cohort. The OTOP2 protein was found in the basal cells of the stria vascularis, spiral ganglion neurons and inner hair cells in the organ of Corti, suggesting a dual role in endolymphatic homeostasis and neural signal transmission.

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Publication Details

Journal
Journal of Medical Genetics
Published
2026-04-22
DOI
https://doi.org/10.1136/jmg-2025-111426
Primary Topic
Hearing, Cochlea, Tinnitus, Genetics
Type
article
Field-Weighted Citation Impact
0.00

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article

Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere’s disease cohort

José A. López‐Escámez, Jinsei Jung, Sung Huhn Kim, Han Chow Chua et al.
Journal of Medical Genetics
Hearing, Cochlea, Tinnitus, Genetics
article

Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere’s disease cohort

José A. López‐Escámez, Jinsei Jung, Sung Huhn Kim, Han Chow Chua, Prathamesh T. Nadar‐Ponniah, Heon Yung Gee, Mai T. Pham, J T Choi, Pablo Cruz‐Granados, Seung Hyun Jang
article en

Abstract

BACKGROUND: Meniere's disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes remain to be established in non-Finnish European populations. METHODS: By exome sequencing and rare variant analysis, we have searched for existing and novel genes associated with MD in a South Korean cohort of 16 MD individuals with bilateral sensorineural hearing loss. RESULTS: concentrations. CONCLUSION: gene, previously associated with European MD, have been found in the South Korean cohort. The OTOP2 protein was found in the basal cells of the stria vascularis, spiral ganglion neurons and inner hair cells in the organ of Corti, suggesting a dual role in endolymphatic homeostasis and neural signal transmission.

Journal of Medical Genetics
The University of Sydney (AU), Universidad de Granada (ES), Yonsei University (KR), Korea Institute of Brain Science (KR), Centre for Biomedical Network Research on Rare Diseases (ES), Instituto de Investigación Biosanitaria de Granada (ES), Centro de Investigación Biomédica en Red (ES), Northern Sydney Local Health District (AU), Korea Brain Research Institute (KR), Pham Ngoc Thach Hospital (VN), Ear Science Institute Australia (AU)
University of Sydney
Openalex Percentile: Top 8%
Hearing, Cochlea, Tinnitus, Genetics
DOISourceOpenAlex
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