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Analysis between phenotypes and genotypes of inner ear malformation.
Suyang Wang1, Wenjuan Ding2, Chi Chen2
1a Department of Otolaryngology-Head and Neck Surgery , Maternal and Child Health Hospital of Gansu Province , Lanzhou , China.
Acta Oto-Laryngologica
|February 15, 2019
Summary
Enlarged Vestibular Aqueduct (EVA) is often diagnosed in childhood and linked to the SLC26A4 gene. Genetic analysis helps understand EVA
Area of Science:
- Genetics
- Otolaryngology
- Medical Imaging
Background:
- Enlarged Vestibular Aqueduct (EVA) and its clinical features are gaining attention.
- Audiological and imaging characteristics of EVA are subjects of extensive research.
Purpose of the Study:
- To investigate the phenotypes and genotypes of EVA.
- To establish the relationship between clinical phenotypes and genotypes in EVA patients.
Main Methods:
- Audiometry, high-resolution CT, and inner ear MRI were performed on 60 EVA patients.
- SNPscan technology was utilized for genetic analysis after informed consent.
- Statistical analysis was conducted using SPSS19.0 software.
Main Results:
- Three malformation types were identified: EVA (48.20%), EVA with Mondini (40.10%), and Mondini (11.70%).
- SLC26A4 gene mutations were found in 88.68% of EVA patients, with c.919-2A>G/c.919-2A>G being the most common genotype.
- Significant differences in mutation frequencies were observed between GJB2 and SLC26A4 genes (p<.001).
Conclusions:
- EVA patients often present with severe sensorineural hearing loss in childhood, and cochlear implantation is a viable option.
- The SLC26A4 gene is strongly associated with EVA.
- GJB2 and mtDNA genes were not found to be responsible for EVA.
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