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....
No immediate practice change; findings are preliminary and population-specific, but they add to the genetic atlas of SLC26A4-related hearing loss and may guide targeted genetic testing panels for Mongolian patients with enlarged vestibular aqueduct.
Identifying population-specific SLC26A4 variants expands the genetic diagnostic toolkit for enlarged vestibular aqueduct, particularly for underrepresented Asian ethnicities.
- 01Whole-exome sequencing revealed a unique SLC26A4 mutation spectrum in a Mongolian EVA cohort.
- 02SLC26A4 mutations are a known cause of sensorineural hearing loss associated with enlarged vestibular aqueduct.
- 03The mutation profile differs from previously described spectra in East Asian and Western populations.
- 04Study is labeled preliminary, limiting the strength of clinical conclusions.
- 05Findings may improve genetic counseling accuracy for Mongolian patients with EVA-related hearing loss.
Whole-exome sequencing identified a unique SLC26A4 mutation spectrum in a Mongolian enlarged vestibular aqueduct cohort.
studypartially supportedSLC26A4 mutations are associated with sensorineural hearing loss in this Mongolian cohort.
studysupported- PMID
- 42353084
- DOI
- 10.3390/ijms27125364.
- Journal
- International Journal of Molecular Sciences
- Publication type
- research_article
- Evidence level
- 4
- Population
- Mongolian individuals with enlarged vestibular aqueduct and sensorineural hearing loss
- Intervention
- Whole-exome sequencing for SLC26A4 mutation identification
Primary outcomes
SLC26A4 mutation spectrum characterization in Mongolian EVA cohort