A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study.

doi:10.3390/ijms27125364

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Article

A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study.

International journal of molecular sciences - 14 Jun 2026

Erdenechuluun Jargalkhuu, Gombojav Bayasgalan, Batsaikhan Tserendulam, Lu Yue-Sheng, Danshiitsoodol Narandalai, Makhbal Zaya, Jargalmaa Maralgoo, Jargalkhuu Tuvshinbayar, Hsu Ho-Peng, Lin Pei-Hsuan, Su Hung-Ju, Lin Chien-Hsing, Chiang Yu-Ting, Hsu Chuan-Jen, Chen Pei-Lung, Hsu Jacob Shu-Jui, Tsai Cheng-Yu, Wu Chen-Chi

Abstract excerpt

Enlarged vestibular aqueduct (EVA) is a common inner ear malformation that causes sensorineural hearing loss. It is frequently associated with pathogenic variants in the SLC26A4 gene. This study aimed to investigate the genetic basis of hearing loss in Mongolian patients with EVA. Whole-exome sequencing was performed in 19 Mongolian patients from 15 unrelated families diagnosed with EVA with or without cochlear...

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