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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 被引量：8

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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Frizzled4（FZD4）和共受体低密度脂蛋白受体相关蛋白5（LRPS）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。
作者 杨文杰 张琦 赵培泉
机构地区 上海交通大学医学院附属新华医院眼科
出处 《中华眼底病杂志》 CAS CSCD 北大核心 2011年第5期497-499,共3页 Chinese Journal of Ocular Fundus Diseases
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
分类号 R774.1 [医药卫生—眼科]
  • 相关文献

参考文献20

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二级参考文献38

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共引文献4

同被引文献123

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引证文献8

二级引证文献49

中华眼底病杂志
2011年 第5期

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