家族性渗出性玻璃体视网膜病变致病基因及信号传导途径

被引：5

作者：

杨文杰

张琦

赵培泉

机构：

[1] 上海交通大学医学院附属新华医院眼科

来源：

中华眼底病杂志 | 2011年 / 05期

关键词：

视网膜疾病/先天性; 视网膜疾病/遗传学; 视网膜血管/畸形; 基因; 综述;

D O I：

暂无

中图分类号：

R774.1 [视网膜疾病];

学科分类号：

摘要：

家族性渗出性玻璃体视网膜病变(FEVR)是一种遗传性视网膜血管发育异常的疾病。其遗传方式包括常染色体显性遗传、常染色体隐性遗传和X染色体连锁隐性遗传等3种。其中,常染色体显性遗传主要与Wnt受体Frizzled-4(FZD4)和共受体低密度脂蛋白受体相关蛋白5(LRP5)基因位点突变相关;X染色体隐性遗传主要与Norrie病(NDP)基因突变相关;常染色体隐性遗传主要是LRP5基因位点的突变。3种与FEVR相关的致病基因均与Wnt信号传导途径有紧密关联。位于常染色体7q31的四旋蛋白12(Tspan-12)位点的突变也可以导致FEVR,它参与了Norrin-β-catenin信号传导途径。

引用

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