Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2014 Jan;34(1):75-7.
doi: 10.1038/jp.2013.135.

Fetal intracerebral hemorrhage and cataract: think COL4A1

E Colin  1 , L Sentilhes  2 , A Sarfati  2 , M Mine  3 , A Guichet  1 , C Ploton  3 , F Boussion  2 , B Delorme  4 , E Tournier-Lasserve  3 , D Bonneau  1
Affiliations
Case Reports

Fetal intracerebral hemorrhage and cataract: think COL4A1

E Colin et al. J Perinatol. 2014 Jan.

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.

PubMed Disclaimer

References

    1. Arch Ophthalmol. 2010 Apr;128(4):483-9 - PubMed
    1. Ultrasound Obstet Gynecol. 2005 Sep;26(3):233-43 - PubMed
    1. Ultrasound Obstet Gynecol. 2012 Jun;39(6):726-7 - PubMed
    1. Ann Neurol. 2009 Jan;65(1):12-8 - PubMed
    1. Ultrasound Obstet Gynecol. 2013 Feb;41(2):228-30 - PubMed

Publication types

LinkOut - more resources