Genotype-Phenotype Correlation of Hereditary Plasminogen Deficiency: Molecular Mechanisms From 18 Patients With Cerebral Infarction.

Key Points

• To explore the relationship between genetic variants in the PLG gene and the incidence of cerebral infarction in affected individuals.
• Analyzed genotype-phenotype correlations in hereditary plasminogen deficiency
• Included assessment of PLG gene variants
• Evaluated catalytic activity and fibrinolytic function
• Patients with PLG deficiency show significantly impaired fibrinolytic function
• Diminished catalytic activity correlates with higher incidence of cerebral infarction
• Increased risk of cerebral infarction linked to specific PLG gene variants