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表 1 Usher综合征的致病位点和基因
位点 定位 基因 蛋白 功能 USH1B 11q13.5 MYO7A myosin Ⅶa 内耳和视网膜：运输 USH1C 11p15.1 USH1C harmonin 内耳和视网膜：支架 USH1D 10q22.1 CDH23 cadherin23 内耳：形成顶端连接；视网膜：维持纤毛周边平衡 USH1E 21q21 未知 未知 未知 USH1F 10q21.1 PCDH15 protocadherin15 内耳：形成顶端连接；视网膜：维持纤毛周边平衡 USH1G 17q25.1 USH1G SANS 内耳和视网膜：支架和蛋白质交换 USH1H 15q22-23 未知 未知 未知 USH1J 15q25.1 CIB2 CIB2 内耳和视网膜：参与信号反应 USH2A 1q41 USH2A usherin 内耳：静纤毛踝区形成和耳蜗发育；视网膜：维持纤毛周边平衡 USH2C 5q14.3 GPR98 VLGR1 内耳：静纤毛踝区形成和耳蜗发育；视网膜：维持纤毛周边平衡 USH2D 9q32 DFNB31 whirlin 内耳：支架和耳蜗发育；视网膜：支架 USH3A 3q25.1 USH3A clarin-1 内耳和视网膜：突触信号传导 USH3B 20q 未知 未知 未知 
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