广东省59例大前庭水管综合征患者SLC26A4基因突变及表型分析

Mutations in SLC26A4 Gene and Relevant Phenotype Analysis in Fifty-nine Cases of Enlargement of Vestibular Aqueduct(EVA)Syndrome Children in Guangdong District

朱美婵;周枫;王蒙;林颖;王兴君;于锋;王海涛;黄利芬;梁子健;

1:广州市耳鼻咽喉头颈外科医院(广州市第十二人民医院)

2:广州医科大学耳鼻咽喉头颈外科研究所

3:广州市耳鼻咽喉头颈外科医院听力中心

4:耳鼻咽喉头颈外科

摘要
目的探讨广东省大前庭水管综合征(enlargement of vestibular aqueduct syndrome,EVAS)患者SLC26A4基因位点突变及相关听力表型,为研究EVAS发病机制提供参考。方法采用基因芯片法对59例EVAS患儿进行SLC26A4基因IVS7-2A>G:2168A>G位点检测,并行颞骨CT影像学检查。结果59例EVAS患者中21例(35.59%)为SLC26A4双等位基因(纯合或复合杂合)突变,其中16例为IVS7-2A>G纯合突变,2例为2168A>G纯合突变,3例为IVS7-2A>G、2168A>G复合杂合突变,这21例CT均显示为双侧前庭水管扩大或其他内耳畸形;38例为SLC26A4单等位基因突变,其中31例为IVS7-2A>G杂合突变,7例为2168A>G杂合突变,这38例中4例为前庭水管扩大伴Mondini畸形,2例表型正常,其余均为双侧前庭水管扩大。59例患儿均表现为重度-极重度聋。结论本组EVAS患者中SLC26A4基因IVS7-2A>G位点的突变发生率最高,其次为2168A>G;均表现为双耳重度或极重度感音神经性听力损失。
关键词
SLC26A4基因;大前庭水管综合征;内耳畸形;表型
基金项目(Foundation):
广州市科技计划项目(2014Y2-00119)资助
作者
朱美婵;周枫;王蒙;林颖;王兴君;于锋;王海涛;黄利芬;梁子健;
参考文献

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