Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome.
- Author:
Qi LI
1
;
Ruping FANG
;
Yiwen YOU
;
Yong WANG
;
Pu DAI
Author Information
1. Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Child;
Female;
Genetic Testing;
Hearing Loss;
genetics;
Humans;
Male;
Membrane Transport Proteins;
genetics;
Mutation;
Sulfate Transporters;
Syndrome;
Vestibular Aqueduct
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2010;24(19):876-879
- CountryChina
- Language:Chinese
-
Abstract:
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.
