Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
Department of Obstetrics and Gynecology, Angers University Hospital, Angers, France.
J Perinatol. 2014 Jan;34(1):75-7. doi: 10.1038/jp.2013.135.
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.
COL4A1 基因编码 IV 型胶原的 α1 链，IV 型胶原是几乎所有基底膜的重要组成部分。COL4A1 基因突变首先与脑微血管病和家族性脑裂畸形相关。最近，几位作者报道了 COL4A1 基因突变是产前颅内出血（ICH）的孟德尔病因。我们报告了两例与白内障相关的产前 ICH 病例，并提示 COL4A1 基因突变应考虑在产前 ICH 的胎儿中，特别是在超声检查中存在晶状体异常的情况下。
