Abstract
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.
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EC, LS, AS and DB wrote the paper, MM, CP and ET-L did the sequencing of COL4A1, AG provided the genetic counseling, FB carried out the US examination, BD performed the fetal magnetic resonance imaging.
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Colin, E., Sentilhes, L., Sarfati, A. et al. Fetal intracerebral hemorrhage and cataract: think COL4A1. J Perinatol 34, 75–77 (2014). https://doi.org/10.1038/jp.2013.135
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DOI: https://doi.org/10.1038/jp.2013.135
