Baraitser-Winter综合征患者感音神经性聋发生机制的研究进展

Research Progress on Mechanism of Sensorineural Deafness in Patients with Baraitser-Winter Syndrome

Baraitser-Winter综合征(Baraitser-Winter syndrome,BWS)是一种罕见的常染色体显性遗传发育障碍疾病,可伴有进行性感音神经性聋。有研究显示1%的人类基因表达与听觉功能有关。目前为止,已发现超过1000个基因突变可导致遗传性听力损失。伴有感音神经性聋的BWS主要是由胞质表达的肌动蛋白基因ACTB或ACTG1发生错义突变而引起。本文就BWS患者中感音神经性聋相关基因突变位点的研究进展进行探讨,以期为遗传性耳聋患者的病因诊断提供一定价值与帮助。

Baraitser-Winter syndrome(BWS)is a rare autosomal dominant disorder that may be accompanied by progressive sensorineural deafness.Studies have shown that 1%of human gene expression is related to auditory function.To date,more than 1,000 genetic mutations have been identified to cause hereditary hearing loss.BWS with sensorineural deafness is mainly caused by a missense mutation in the actin gene ACTB or ACTG1 by cytoplasmic expression.This paper discusses research progress on gene mutation sites related to sensorineural deafness in BWS patients,in order to provide some value and help for the etiological diagnosis of patients with hereditary deafness.