Two cousins with neonatal stroke, PAI-1 4G variant and MTHFR A1298C mutation.
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.
Golomb
Meredith R
MR
Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis 46202, USA. mgolomb@iupui.edu
Heiny
Mark
M
Garg
Bhuwan P
BP
D005165:Factor V / Q000235:genetics; D005190:Family; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D020521:Stroke / Q000235:genetics*
D017395:Plasminogen Activator Inhibitor 1; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)