COL4A1 mutation in preterm intraventricular hemorrhage

J Pediatr. 2009 Nov;155(5):743-5. doi: 10.1016/j.jpeds.2009.04.014.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebral Hemorrhage / diagnostic imaging
  • Cerebral Hemorrhage / genetics*
  • Collagen Type IV / genetics*
  • Diseases in Twins / diagnostic imaging
  • Diseases in Twins / genetics*
  • Female
  • Follow-Up Studies
  • Gene Expression Regulation, Developmental
  • Genetic Predisposition to Disease*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases / diagnostic imaging
  • Infant, Premature, Diseases / genetics*
  • Male
  • Mutation*
  • Pregnancy
  • Twins, Dizygotic
  • Ultrasonography, Doppler, Transcranial


  • Collagen Type IV