COL4A1 Mutation in Preterm Intraventricular Hemorrhage

Bilguvar K., DiLuna M. L. , Bizzarro M. J. , BAYRİ Y., Schneider K. C. , Lifton R. P. , ...More

JOURNAL OF PEDIATRICS, vol.155, no.5, pp.743-745, 2009 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 155 Issue: 5
  • Publication Date: 2009
  • Doi Number: 10.1016/j.jpeds.2009.04.014
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.743-745


Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens. (J Pediatr 2009; 155: 743-5).