title: COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.
abstract: COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities.
  
  
  
  We describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1.
  
  
  
  Identification of this mutation in affected individuals has implications for perinatal management and genetic counseling.
authors.affiliation: Nationwide Children's Hospital, Columbus, Ohio.
authors.forename: Shaheen
authors.initials: S
authors.lastname: Durrani-Kolarik
authors.affiliation: Nationwide Children's Hospital, Columbus, Ohio; Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio.
authors.forename: Kandamurugu
authors.initials: K
authors.lastname: Manickam
authors.affiliation: Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio; Center for Perinatal Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio. Electronic address: bernadette.chen@nationwidechildrens.org.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Chen
mesh_terms: D024141:Collagen Type IV / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011296:Prenatal Diagnosis; D020521:Stroke / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: Axenfeld–Rieger; cataract; fetal porencephaly; hemorrhagic stroke