[Molecular genetic analysis of SLC26A4 2168A > G mutations in sensorineural hearing loss with unknown reason in Henan province].
OBJECTIVE
To survey the etiology of sensorineural hearing loss with unknown reason and the incidence of the mutation of SLC26A4 2168A > G in Henan province.


METHODS
The evaluation of hearing loss, etiologic survey, the molecular genetic analysis and temporal bone CT examination for genes common to hereditary hearing disorders were performed in 95 hearing-impaired patients in Henan province.


RESULTS
In the deafness group, the incidence of large vestibular aqueduct syndrome (LVAS) which correlates with SLC26A4 2168A > G is 6.32%. The incidence of the gene diagnosis conformed to the clinical one is 83.3%.


CONCLUSIONS
There is a high incidence of SLC26A4 2168 A > G mutation in sensorineural hearing loss with unknown reason. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
Zhu
Yunhua
Y
Department of Otolaryngology, Shangqiu First People's Hospital, Shangqiu 450052, China.
Neng
Lingling
L
Li
Meisheng
M
Dong
Mingmin
M
D001483:Base Sequence; D002681:China / Q000453:epidemiology; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters