Abstract
SLC26A4is the primary responsibility gene for enlarged vestibular aqueduct(EVA). The nature of hearing loss caused bySLC26A4gene mutations is mainly sensorineural deafness, it can also be expressed as conductive or mixed deafness. The degree of hearing loss caused bySLC26A4gene mutations is mostly severe or profound, the type of audiometric configurations are diverse, mainly for the high frequency loss, can also be expressed as rising, flat type, W type and island type. In this paper, the relationship betweenSLC26A4gene mutation and hearing phenotype is reviewed, which can provide reference for clinical deafness gene diagnosis and genetic counseling. Key words: SLC26A4 gene; Mutation; Hearing
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