Fetal intracerebral hemorrhage and cataract: think COL4A1
Fetal intracerebral hemorrhage and cataract: think COL4A1
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DOI：
10.1038/jp.2013.135
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发表时间：
2014-01-01
影响因子：
2.9
通讯作者：
Bonneau, D.
中科院分区：
文献类型：
--
作者：
Colin, E.;Sentilhes, L.;Bonneau, D.
COL4A1基因编码IV型胶原蛋白的α 1链，这是几乎所有基底膜的重要组成部分。COL4A1突变首先与脑微血管病和家族性脑穿通症相关。最近，几位作者报道了COL4A1突变是产前颅内出血（ICH）的孟德尔原因。我们报告了两例与白内障相关的产前脑出血，并建议在产前脑出血胎儿中应考虑COL4A1突变，特别是在超声检查存在透镜异常的情况下。
The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause of prenatal onset intracranial hemorrhage (ICH). We report two cases of prenatal ICH associated with cataract and suggest that COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at ultrasound examination.