Analysis and clinical characteristics of SLC26A4 gene mutations in 72 cases of large vestibular aqueduct syndrome.
10.13201/j.issn.2096-7993.2025.07.002
- Author:
Yuqing LIU
1
;
Wenyu XIONG
2
;
Yu LU
2
;
Lisong LIANG
3
;
Kejie YANG
1
;
Li LAN
1
;
Wei HAN
1
;
Qing YE
1
;
Min WANG
1
;
Yuan ZHANG
1
;
Fangying TAO
1
;
Zuwei CAO
1
;
Wei HUANG
1
;
Xue YANG
1
Author Information
1. Guizhou Provincial People's Hospital Hearing Department Guizhou Provincial Newborn Hearing Screening and Diagnosis Center Guizhou Provincial Hearing Rehabilitation Research Center Guizhou Provincial Hearing Screening Technical Personnel Training Center，Guiyang，550000，China.
2. Rare Disease Research Institute of West China Hospital，Sichuan University.
3. Department of Medical Imaging，Guizhou Provincial People's Hospital.
- Publication Type:Journal Article
- Keywords:
SLC26A4 gene;
clinical characteristics;
large vestibular aqueduct syndrome
- MeSH:
Humans;
Sulfate Transporters;
Vestibular Aqueduct/abnormalities*;
Mutation;
Membrane Transport Proteins/genetics*;
Hearing Loss, Sensorineural/genetics*;
Male;
Female;
Child;
Adolescent;
Child, Preschool;
Adult;
Young Adult;
Phenotype;
High-Throughput Nucleotide Sequencing
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2025;39(7):603-609
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
