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.
Method: 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.
Result: 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%.
Conclusion: 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.