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[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome]
Qi Li1, Ruping Fang, Yiwen You
1Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
Objective:
To investigate the frequencies of SLC26A4 hot spot mutations by genetic testing method in non-syndromic hearing loss children. The feasibility of genetic screening method in finding enlarged vestibular aqueduct syndrome was confirmed by temporal bone CT scan.
Method:
Ninety-two children with moderate-profound hearing loss were enrolled and DNA were extracted from peripheral blood. SLC26A4 IVS7-2A > G and H723R mutations were analyzed by direct sequencing. The individual with homozygous, compound heterozygous or heterozygous SLC26A4 mutations was given further temporal CT scan.
Result:
The sequencing results revealed 11 (12.0%) cases carrying SLC26A4 mutations, including 5 cases of bi-allelic mutation and 6 cases of single allelic mutation.
Conclusion:
The SLC26A4 mutations has a high carrying rate in non-syndromic hearing loss children. The screening for the SLC26A4 gene mutations is useful in the diagnosis of EVAS.
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