摘要SLC26A4是导致前庭导水管扩大的主要责任基因.该基因突变引起的听力损失多为感音神经性聋,也可为传导性或混合性聋,听力损失程度多为重度或极重度,听力曲线类型主要表现为高频下降型,也可表现为上升型、平坦型、W型及岛型.本文将SLC26A4基因突变与听力表型的关系进行文献综述,可为临床耳聋基因诊断和遗传咨询提供参考.

abstractsSLC26A4 is the primary responsibility gene for enlarged vestibular aqueduct(EVA). The nature of hearing loss caused by SLC26A4 gene mutations is mainly sensorineural deafness,it can also be expressed as conductive or mixed deafness.The degree of hearing loss caused by SLC26A4 gene 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 between SLC26A4 gene mutation and hearing phenotype is reviewed, which can provide reference for clinical deafness gene diagnosis and genetic counseling.