Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
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DOI：
10.1086/425080
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发表时间：
2004-11-01
影响因子：
9.8
通讯作者：
Hejtmancik, JF
中科院分区：
文献类型：
--
作者：
Jiao, XD;Ventruto, V;Hejtmancik, JF
家族性渗出性玻璃体视网膜病变（FEVR）是一种遗传性眼病，影响视网膜和玻璃体。常染色体隐性FEVR被诊断为来自三个欧洲血统的血缘家庭的多个个体。候选基因座定向基因组扫描显示与染色体11 q上两侧标记D11 S905和D11 S1314的区域连锁。使用标记D11 S987在θ = 0时获得的最大LOD评分为3.6。单倍型分析证实，关键区域是22 cM（311 Mb）的间隔两侧的标记D11 S905和D11 S1314。该区域含有LRP 5，但不含FZD 4;这两个基因的突变导致常染色体显性FEVR。LRP 5的测序显示，在所有三个家庭中，纯合突变R570 Q，R752 G和E1367 K。这表明该基因的突变可导致常染色体隐性以及常染色体显性FEVR。
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body. Autosomal recessive FEVR was diagnosed in multiple individuals from three consanguineous families of European descent. A candidate-locus-directed genome scan shows linkage to the region on chromosome 11q flanked by markers D11S905 and D11S1314. The maximum LOD score of 3.6 at theta = 0 is obtained with marker D11S987. Haplotype analysis confirms that the critical region is the 22-cM (311-Mb) interval flanked by markers D11S905 and D11S1314. This region contains LRP5 but not FZD4; mutations in both of these genes cause autosomal dominant FEVR. Sequencing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K. This suggests that mutations in this gene can cause autosomal recessive as well as autosomal dominant FEVR.