Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 876-879, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-747494
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Membrane Transport Proteins
/
Syndrome
/
Vestibular Aqueduct
/
Genetic Testing
/
Sulfate Transporters
/
Genetics
/
Hearing Loss
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Year:
2010
Type:
Article
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