Two cousins with neonatal stroke, PAI-1 4G variant and MTHFR A1298C mutation

J Child Neurol. 2007 Jun;22(6):753-5. doi: 10.1177/0883073807304001.

Abstract

The authors describe 2 female cousins with neonatal stroke. One was heterozygous for the plasminogen activator inhibitor-1 4G variant and compound heterozygous for the A1298C and C677T methylenetetrahydrofolate reductase mutations. Her cousin was homozygous for the plasminogen activator inhibitor-1 4G variant and heterozygous for the methylenetetrahydrofolate reductase A1298C and factor V Leiden mutations.

Publication types

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

MeSH terms

  • Factor V / genetics
  • Family*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Infant
  • Magnetic Resonance Angiography
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation*
  • Plasminogen Activator Inhibitor 1 / genetics*
  • Stroke / genetics*

Substances

  • Plasminogen Activator Inhibitor 1
  • Factor V
  • Methylenetetrahydrofolate Reductase (NADPH2)