title: Fetal intracerebral hemorrhage and cataract: think COL4A1.
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.
authors.affiliation: Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
authors.forename: E
authors.initials: E
authors.lastname: Colin
authors.affiliation: Department of Obstetrics and Gynecology, Angers University Hospital, Angers, France.
authors.forename: L
authors.initials: L
authors.lastname: Sentilhes
authors.affiliation: Department of Obstetrics and Gynecology, Angers University Hospital, Angers, France.
authors.forename: A
authors.initials: A
authors.lastname: Sarfati
authors.affiliation: Department of Neurovascular Genetics, AP-HP, Hospital Group Saint-Louis Lariboisiere-Fernand-Widal, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Mine
authors.affiliation: Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
authors.forename: A
authors.initials: A
authors.lastname: Guichet
authors.affiliation: Department of Neurovascular Genetics, AP-HP, Hospital Group Saint-Louis Lariboisiere-Fernand-Widal, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Ploton
authors.affiliation: Department of Obstetrics and Gynecology, Angers University Hospital, Angers, France.
authors.forename: F
authors.initials: F
authors.lastname: Boussion
authors.affiliation: Department of Radiology, Angers University Hospital, Angers, France.
authors.forename: B
authors.initials: B
authors.lastname: Delorme
authors.affiliation: Department of Neurovascular Genetics, AP-HP, Hospital Group Saint-Louis Lariboisiere-Fernand-Widal, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.affiliation: Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000328:Adult; D002386:Cataract / Q000000981:diagnostic imaging / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000000981:diagnostic imaging / Q000235:genetics*; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV