SLC26A4基因突变与耳聋

SLC26A4 Gene Mutations and Deafness

耳聋是最常见感觉障碍之一,与遗传关系密切。SLC26A4基因作为第二位的耳聋基因,与Pendred综合征(PS)和非综合征性聋DFNB4密切相关。SLC26A4基因突变主要与PS及DFNB4共同表现出的前庭水管扩大(EVA)相关,且不同种族及地区EVA患者该基因的突变频率及热点突变大不相同。SLC26A4基因的表现型与突变的类型关系不大,而是与等位基因数目相关。但目前SLC26A4基因突变的研究仍不完善。本文主要综述了近年来耳聋及SLC26A4基因的研究进展。

Deafness is one of the most common sensory disturbances. SLC26A4 genes as the second deafness genes are closely related to Pen- dred syndrome（PS） and the nonsyndromie hearing impairment DFN1M. SLC26A4 gene mutations are mainly associated with the enlarged ves- tibular aqueduct in both PS and DFNB4, which have been confirmed by the imaging of temporal bone and molecular testing of SLC26A4 mu- tation. The frequencies and hot spots of SLC26A4 gene mutations. The phenotype of SLC26A4 gene is related to the number of mutations al- leles,not the type of mutation. But up to now the mechanism of SLC26A4 gene mutation has not been completely understood. In this paper, the research progress Of SLC26A4 gene mutations on deafness in recent years is reviewed.